DOCSLIB.ORG

Multiple Facial Milia in Patients with Loeys-Dietz Syndrome

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Multiple Facial Milia in Patients with Loeys-Dietz Syndrome OBSERVATION ONLINE FIRST Multiple Facial Milia in Patients With Loeys-Dietz Syndrome Brendan M. Lloyd, MD; Alan C. Braverman, MD; Milan J. Anadkat, MD Background: Loeys-Dietz syndrome (LDS) results from cases, affected relatives were reported to have similar mutations in the TGFBR1 or TGFBR2 genes and is known findings. to cause aggressive cardiovascular disease, including aor- tic aneurysms and dissections at an early age. Cur- Conclusions: To our knowledge, the association of LDS rently, craniofacial, skeletal, and cardiovascular find- and facial milia has not been previously reported. Recogni- ings play an important role in early recognition of the tion of LDS is important because the aggressive aortic and disease. While many patients do have recognizable cu- arterial disease warrants early surgical therapy. Facial milia taneous features of LDS, little information about associ- and other cutaneous findings may possibly differentiate LDS ated skin findings has been reported. from Marfan syndrome and other related disorders, thereby facilitating early diagnosis. Interestingly, each of the 4 pa- tients with LDS and facial milia had a mutation in TGFBR2 Observations: Four unrelated patients with LDS due despite widespread variability in other features of the disease. to a mutation in the TGFBR2 gene were observed to have numerous facial milia. All 4 patients reported Arch Dermatol. 2011;147(2):223-226. that the milia had been present since early childhood Published online October 18, 2010. and had increased in number with time. In some doi:10.1001/archdermatol.2010.284 OEYS-DIETZ SYNDROME (LDS) Numerous cardiovascular and skeletal (OMIM #609192) is a re- manifestations of LDS have been described cently described autosomal in several case series. The only reported cu- dominant disorder that is taneous findings to date include velvety and caused by mutations in translucent skin, easy bruising, varicose TGFBR1 or TGFBR2 (transforming growth veins, and atrophic scars.1,2,6 The facies of L 1,2 factor ␤[TGF-␤]-receptor) genes. Patients LDS are characterized by malar hypopla- with LDS have widespread manifestions sia, retrognathia, deformities and asymme- that may include arterial tortuosity, aortic try resulting from craniosynostosis, bluish aneurysms and dissections, craniosynosto- sclera, and hypertelorism. Other common sis, hypertelorism, cleft lip, cleft palate, skeletal abnormalities include arachnodac- bifid uvula, bluish sclera, arachnodactyly, tyly, pectus deformity, scoliosis, cervical pectus deformities, and velvety and trans- spine abnormalities, talipes equinovarus, lucent skin. Some authors have further clas- camptodactyly, and joint laxity. sified patients with LDS into type I (those To date, our institution follows up 25 in- with more severe craniofacial abnormalities) dividuals with LDS, each with a mutation in and type II (those with velvety and translu- TGFBR1 or TGFBR2. We describe 4 patients cent skin, resulting in easily visible veins), from this population with LDS who have nu- but there is considerable overlap.2 merous facial milia that have been present Abnormalities in TGF-␤ signaling are sinceearlychildhood.Toourknowledge,this known to be associated with Marfan syn- finding has not previously been reported in drome and other aneurysm syndromes.3,4 patientswith TGFBR1orTGFBR2mutations outside of a brief oral communication, which Marfan syndrome is characterized by mu- 7 tations in the fibrillin-1 gene (FBN1), included 1 of our 4 patients. We also report which produces structural defects in the otherpotentiallyrelevantcutaneousfindings extracellular matrix as well as increased in these patients in an attempt to summarize known skin manifestations of LDS. TGF-␤ signaling.5 Both structural and Author Affiliations: Division of regulatory abnormalities are thought to Dermatology (Drs Lloyd and REPORT OF CASES Anadkat) and Cardiovascular contribute to the pathogenesis. In LDS, the mutation occurs in TGFBR1 or TGFBR2, Division (Dr Braverman), CASE 1 Washington University School producing a different phenotype with some of Medicine, St. Louis, overlapping features but with much more An 18-year-old man with LDS presented Missouri. aggressive cardiovascular disease.2 with numerous facial milia, most notably (REPRINTED) ARCH DERMATOL/ VOL 147 (NO. 2), FEB 2011 WWW.ARCHDERMATOL.COM 223 ©2011 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/01/2021 Figure 1. An 18-year-old man with Loeys-Dietz syndrome and numerous Figure 3. A 24-year-old woman with Loeys-Dietz syndrome and more than periocular milia (patient 1). 25 milia in and around the left orbit (patient 2). An atrophic scar is also visible. and inspection of his oral cavity showed a high-arched palate and bifid uvula. His cardiovascular findings included aneurysms of his aortic root and left subclavian artery, which had been re- paired surgically. Numerous other tortuous cervicocra- nial vessels had been identified radiographically. He had also undergone surgical correction of the talipes equino- varus and pectus excavatum. Other significant skeletal abnormalities included kyphoscoliosis, arachnodactyly, camptodactyly, and joint laxity. Before LDS was described in 2005, this patient had been incorrectly diagnosed as having Shprintzen-Goldberg syn- drome. The correct diagnosis of LDS was confirmed in 2005 by the identification of a TGFBR2 mutation (p.Arg537Gly). His father, who had a surgically repaired aortic aneurysm, was also diagnosed as having LDS at that time. The father was not known to have facial milia. CASE 2 A 24-year-old woman with LDS due to a mutation in TGFBR2 (p.Arg528His) presented with numerous facial milia in the orbital area, including the eyelids (Figure 3). Milia had also developed at sites of scarring, including within and around her wide atrophic sternotomy scar. She reported that the facial milia had been present since early childhood. Physical examination revealed prominent malar at- rophoderma vermiculatum (Figure 4). Other facial fea- tures included hypertelorism and retrognathia. The oral cavity was notable for a high-arched palate and a broad Figure 2. The face of patient 1 is notable for hypertelorism, malar hyoplasia, and retrognathia. The sequelae of craniosynostosis after multiple repairs are uvula. The patient had undergone surgical resection also evident. Numerous milia are visible infraorbitally. of an ascending aortic aneurysm as well as replacement of both the aortic and the mitral valves. She had enlarge- ment of the pulmonary artery and marked tortuosity of in a periocular distribution (Figure 1). Detailed his- the carotid and vertebral arteries as well. Other skeletal tory from his mother indicated that his facial milia had findings included scoliosis, arachnodactyly, camptodac- been present since early childhood and had increased in tyly, and joint laxity (Figure 5). She also had under- number. The lesions had been “scraped off” numerous gone multiple operations to repair skeletal defects, in- times in childhood, only to recur within a short time. Ex- cluding a cleft palate, pectus excavatum, and talipes amination of his head and face revealed an abnormal cra- equinovarus, and had suffered a spontaneous uterine rup- nial structure consistent with craniosynostosis, hyper- ture that was not related to pregnancy and required an telorism, malar hypoplasia, and retrognathia (Figure 2), emergency hysterectomy. (REPRINTED) ARCH DERMATOL/ VOL 147 (NO. 2), FEB 2011 WWW.ARCHDERMATOL.COM 224 ©2011 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/01/2021 CASE 3 CASE 4 A 36-year-old woman with LDS presented with numer- A 37-year-old woman with LDS presented with numer- ous facial milia. She reported that the milia had been pres- ous facial milia. She reported that the milia had been pres- ent since early childhood. She also reported that her fa- ent since early childhood. Inspection of her skin re- ther, who had suffered a fatal aortic rupture, had similar vealed numerous striae. Examination of her oral cavity facial lesions. She has 2 children with LDS, one of whom revealed a high-arched palate and a bifid uvula. Her car- has facial lesions consistent with milia. diovascular surgical history consisted of an aortic root Examination of her oral cavity was notable for a replacement. She also had mitral valve prolapse and mild high-arched palate. She did not have a noticeably tortuosity of her cervical vessels. broad or bifid uvula. Skeletal abnormalities included Her skeletal abnormalities included pectus excava- mild arachnodactyly and joint laxity. She had velvety tum, scoliosis, and hyperflexibility. She had experi- skin and easily visible veins. She also had suffered a enced numerous joint dislocations. She also had been type A aortic dissection and had undergone surgical diagnosed as having Marfan syndrome until evaluation repair of an aortic root aneurysm and replacement of in our institution identified a TGFBR2 mutation her aortic valve. She subsequently required resection (p.Arg537Cys). of a descending aortic aneurysm. She had been diag- nosed as having Marfan syndrome until analysis in our institution revealed a mutation in exon 5 of TGFBR2 COMMENT (p.Phe442Leu). It is imperative to diagnose LDS correctly because it is associated with very aggressive vascular disease.8 Also, because LDS may be confused with other familial aneu- rysm syndromes, including Marfan syndrome, vascular Ehlers-Danlos syndrome, and Shprintzen-Goldberg
Load more

Recommended publications
  • REGROUPI NG Congenital & Pediatric
    REGROUPI NG 2 Congenital & Ped iatric CONGENITAL & PAEDIATRIC 18.02.05 Preamble - Objectives and Outcomes ALSO SEE OVERALL PREAMBLE (hypertext link on webpage) Many children and young adults experience congenital health problems which require plastic and/or reconstructive surgery to enable them to function normally. To be effective in this area a surgeon requires technical skill, medical expertise and the capacity to respond effectively to their patients' needs and expectations" The graduating trainee will be able to: • Consistently demonstrate sound surgical skills • Maintain skills and learn new skills • Effectively manage complications • Manage complexity and uncertainty • Appraise and interpret plain radiographs, CT and MRI against patients' needs • Communicate information to patients (and their fa mily) about procedures, potentialities and risks associated with surgery in ways that encourage their participation in informed decision making • Develop a care plan for a patient in collaboration with members of an interdisciplinary team • Promote health maintenance • Draw on different kinds of knowledge in order to weigh up patient's problems in terms of context, issues, needs and consequences For Recommended Reading, Delivery and Assessment see the module fo r each body zone Revisional Knowledge following on from that gained from the PRS Science and Principles Module trainees are required to be able to analyse and appropriately apply the science and principles of the following in clinical environments : Craniomaxillofacial Cra niomaxillofacial embryology, anatomy, genetics • Pathogenesis of craniofacial clefts and their classification • Perioperative management of neurosurgical/orbital surgical/major facial surgical patients (including paediatric) Trunk, Perineum & Breast Embryology • Urogenital embryology - male, female, androgenic influence • Breast embryology Congenital Defects and their cla ssification • Spina bifida • Gastroschisis, omphalocele, Prune-belly • Pectus excavatum, pectus carinatum, Poland syndrome .
    [Show full text]
  • Sotos Syndrome
    European Journal of Human Genetics (2007) 15, 264–271 & 2007 Nature Publishing Group All rights reserved 1018-4813/07 $30.00 www.nature.com/ejhg PRACTICAL GENETICS In association with Sotos syndrome Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed. Introduction In brief Sotos syndrome was first described in 1964 by Juan Sotos Sotos syndrome is characterised by a distinctive facial and the major diagnostic criteria of a distinctive facial appearance, learning disability and childhood over- appearance, childhood overgrowth and learning disability growth. were established in 1994 by Cole and Hughes.1,2 In 2002, Sotos syndrome is associated with cardiac anomalies, cloning of the breakpoints of a de novo t(5;8)(q35;q24.1) renal anomalies, seizures and/or scoliosis in B25% of translocation in a child with Sotos syndrome led to the cases and a broad variety of additional features occur discovery that Sotos syndrome is caused by haploinsuffi- less frequently. ciency of the Nuclear receptor Set Domain containing NSD1 abnormalities, such as truncating mutations, protein 1 gene, NSD1.3 Subsequently, extensive analyses of missense mutations in functional domains, partial overgrowth cases have shown that intragenic NSD1 muta- gene deletions and 5q35 microdeletions encompass- tions and 5q35 microdeletions encompassing NSD1 cause ing NSD1, are identifiable in the majority (490%) of 490% of Sotos syndrome cases.4–10 In addition, NSD1 Sotos syndrome cases.
    [Show full text]
  • Acropectorovertebral Dysgenesis (F Syndrome)
    213 LETTER TO JMG J Med Genet: first published as 10.1136/jmg.2003.014894 on 1 March 2004. Downloaded from Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 H Thiele, C McCann, S van’t Padje, G C Schwabe, H C Hennies, G Camera, J Opitz, R Laxova, S Mundlos, P Nu¨rnberg ............................................................................................................................... J Med Genet 2004;41:213–218. doi: 10.1136/jmg.2003.014894 he F form of acropectorovertebral dysgenesis, also called F syndrome, is a rare dominantly inherited fully Key points Tpenetrant skeletal disorder.1 The name of the syndrome is derived from the first letter of the surname of the family in N Acropectorovertebral dysgenesis, also called F syn- which it was originally described. Major anomalies include drome, is a unique skeletal malformation syndrome, carpal synostoses, malformation of first and second fingers originally described in a four generation American with frequent syndactyly between these digits, hypoplasia family of European origin.1 The dominantly inherited and dysgenesis of metatarsal bones with invariable synostosis disorder is characterised by carpal and tarsal synos- of the proximal portions of the fourth and fifth metatarsals, toses, syndactyly between the first and the second variable degrees of duplication of distal portions of preaxial fingers, hypodactyly and polydactyly of feet, and toes, extensive webbing between adjacent toes, prominence abnormalities of the sternum and spine. of the sternum with variable pectus excavatum and spina bifida occulta of L3 or S1. Affected individuals also have N We have mapped F syndrome in the original family minor craniofacial anomalies and moderate impairment of and were able to localise the gene for F syndrome to a performance on psychometric tests.3 6.5 cM region on chromosome 2q36 with a maximum Two families have been reported to date.
    [Show full text]
  • Hypermobility Syndrome
    EDS and TOMORROW • NO financial disclosures • Currently at Cincinnati Children’s Hospital • As of 9/1/12, will be at Lutheran General Hospital in Chicago • Also serve on the Board of Directors of the Ehlers-Danlos National Foundation (all Directors are volunteers) • Ehlers-Danlos syndrome(s) • A group of inherited (genetic) disorders of connective tissue • Named after Edvard Ehlers of Denmark and Henri- Alexandre Danlos of France Villefranche 1997 Berlin 1988 Classical Type Gravis (Type I) Mitis (Type II) Hypermobile Type Hypermobile (Type III) Vascular Type Arterial-ecchymotic (Type IV) Kyphoscoliosis Type Ocular-Scoliotic (Type VI) Arthrochalasia Type Arthrochalasia (Type VIIA, B) Dermatosporaxis Type Dermatosporaxis (Type VIIC ) 2012? • X-Linked EDS (EDS Type V) • Periodontitis type (EDS Type VIII) • Familial Hypermobility Syndrome (EDS Type XI) • Benign Joint Hypermobility Syndrome • Hypermobility Syndrome • Progeroid EDS • Marfanoid habitus with joint laxity • Unspecified Forms • Brittle cornea syndrome • PRDM5 • ZNF469 • Spondylocheiro dysplastic • Musculocontractural/adducted thumb clubfoot/Kosho • D4ST1 deficient EDS • Tenascin-X deficiency EDS Type Genetic Defect Inheritance Classical Type V collagen (60%) Dominant Other? Hypermobile Largely unknown Dominant Vascular Type III collagen Dominant Kyphoscoliosis Lysyl hydroxylase (PLOD1) Recessive Arthrochalasia Type I collagen Dominant Dermatosporaxis ADAMTS2 Recessive Joint Hypermobility 1. Passive dorsiflexion of 5th digit to or beyond 90° 2. Passive flexion of thumbs to the forearm 3. Hyperextension of the elbows beyond 10° 1. >10° in females 2. >0° in males 4. Hyperextension of the knees beyond 10° 1. Some knee laxity is normal 2. Sometimes difficult to understand posture- forward flexion of the hips usually helps 5. Forward flexion of the trunk with knees fully extended, palms resting on floor 1.
    [Show full text]
  • Soonerstart Automatic Qualifying Syndromes and Conditions
    SoonerStart Automatic Qualifying Syndromes and Conditions - Appendix O Abetalipoproteinemia Acanthocytosis (see Abetalipoproteinemia) Accutane, Fetal Effects of (see Fetal Retinoid Syndrome) Acidemia, 2-Oxoglutaric Acidemia, Glutaric I Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Aciduria, 3-Methylglutaconic Type II Aciduria, Argininosuccinic Acoustic-Cervico-Oculo Syndrome (see Cervico-Oculo-Acoustic Syndrome) Acrocephalopolysyndactyly Type II Acrocephalosyndactyly Type I Acrodysostosis Acrofacial Dysostosis, Nager Type Adams-Oliver Syndrome (see Limb and Scalp Defects, Adams-Oliver Type) Adrenoleukodystrophy, Neonatal (see Cerebro-Hepato-Renal Syndrome) Aglossia Congenita (see Hypoglossia-Hypodactylia) Aicardi Syndrome AIDS Infection (see Fetal Acquired Immune Deficiency Syndrome) Alaninuria (see Pyruvate Dehydrogenase Deficiency) Albers-Schonberg Disease (see Osteopetrosis, Malignant Recessive) Albinism, Ocular (includes Autosomal Recessive Type) Albinism, Oculocutaneous, Brown Type (Type IV) Albinism, Oculocutaneous, Tyrosinase Negative (Type IA) Albinism, Oculocutaneous, Tyrosinase Positive (Type II) Albinism, Oculocutaneous, Yellow Mutant (Type IB) Albinism-Black Locks-Deafness Albright Hereditary Osteodystrophy (see Parathyroid Hormone Resistance) Alexander Disease Alopecia - Mental Retardation Alpers Disease Alpha 1,4 - Glucosidase Deficiency (see Glycogenosis, Type IIA) Alpha-L-Fucosidase Deficiency (see Fucosidosis) Alport Syndrome (see Nephritis-Deafness, Hereditary Type) Amaurosis (see Blindness) Amaurosis
    [Show full text]
  • Scoliosis, Blindness and Arachnodactyly in a Large Turkish Family: Is It a New Syndrome? Genetic Counseling, 19(3):319-330
    Dundar, M; Erkilic, K; Argun, M; Caglayan, AO; Comeglio, P; Koseoglu, E; Matyas, G; Child, AH (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330. Postprint available at: http://www.zora.uzh.ch University of Zurich Posted at the Zurich Open Repository and Archive, University of Zurich. Zurich Open Repository and Archive http://www.zora.uzh.ch Originally published at: Genetic Counseling 2008, 19(3):319-330. Winterthurerstr. 190 CH-8057 Zurich http://www.zora.uzh.ch Year: 2008 Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Dundar, M; Erkilic, K; Argun, M; Caglayan, AO; Comeglio, P; Koseoglu, E; Matyas, G; Child, AH Dundar, M; Erkilic, K; Argun, M; Caglayan, AO; Comeglio, P; Koseoglu, E; Matyas, G; Child, AH (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19(3):319-330. Postprint available at: http://www.zora.uzh.ch Posted at the Zurich Open Repository and Archive, University of Zurich. http://www.zora.uzh.ch Originally published at: Genetic Counseling 2008, 19(3):319-330. Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Abstract In this report we have described an affected sib in a large Turkish family who appears to have a new distinct dominantly-inherited blindness, scoliosis and arachnodactyly syndrome. The combination of clinical abnormalities in these patients did not initially suggest Marfan syndrome or other connective tissue disorders associated with ectopia lentis. The proband was a 16-year-old boy who was referred to our clinics for scoliosis.
    [Show full text]
  • The Effect of Minimally Invasive Pectus Excavatum Repair on Thoracic Scoliosis
    European Journal of Cardio-Thoracic Surgery 59 (2021) 375–381 ORIGINAL ARTICLE doi:10.1093/ejcts/ezaa328 Advance Access publication 30 October 2020 Cite this article as: Is¸can_ M, Kılıc¸ B, Turna A, Kaynak MK. The effect of minimally invasive pectus excavatum repair on thoracic scoliosis. Eur J Cardiothorac Surg 2021;59:375–81. The effect of minimally invasive pectus excavatum repair on thoracic scoliosis Mehlika Is¸can_ a,*, Burcu Kılıc¸b, Akif Turna b and Mehmet Kamil Kaynak b a Department of Thoracic Surgery, Gebze Fatih State Hospital, Kocaeli, Turkey b Department of Thoracic Surgery, Istanbul University-Cerrahpas¸a,Cerrahpas¸aSchool of Medicine, Istanbul, Turkey Downloaded from https://academic.oup.com/ejcts/article/59/2/375/5943430 by guest on 29 September 2021 * Corresponding author. Department of Thoracic Surgery, Gebze Fatih State Hospital, 41400 Gebze - Kocaeli, Turkey. Tel: +90-543-6609334; e-mail: [email protected] (M. Is¸can)._ Received 13 March 2020; received in revised form 17 July 2020; accepted 23 July 2020 THORACIC Abstract OBJECTIVES: The Nuss technique comprises the placement of an intrathoracic bar behind the sternum. However, besides improving the body posture through the correction of the pectus excavatum (PE), this procedure may cause or worsen thoracic scoliosis as a result of the considerable stress loaded on the chest wall and the thorax. Our goal was to investigate the impact of the Nuss procedure on the thoracic spinal curvature in patients with PE. METHODS: A total of 100 patients with PE who underwent the Nuss procedure were included in the study and evaluated retrospectively.
    [Show full text]
  • Chest Wall Abnormalities and Their Clinical Significance in Childhood
    Paediatric Respiratory Reviews 15 (2014) 246–255 Contents lists available at ScienceDirect Paediatric Respiratory Reviews CME article Chest Wall Abnormalities and their Clinical Significance in Childhood Anastassios C. Koumbourlis M.D. M.P.H.* Professor of Pediatrics, George Washington University, Chief, Pulmonary & Sleep Medicine, Children’s National Medical Center EDUCATIONAL AIMS 1. The reader will become familiar with the anatomy and physiology of the thorax 2. The reader will learn how the chest wall abnormalities affect the intrathoracic organs 3. The reader will learn the indications for surgical repair of chest wall abnormalities 4. The reader will become familiar with the controversies surrounding the outcomes of the VEPTR technique A R T I C L E I N F O S U M M A R Y Keywords: The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various Thoracic cage intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called Scoliosis ‘‘respiratory pump’’ that generates the movement of air into the lungs while it prevents their total collapse Pectus Excavatum during exhalation. In order to be performed these functions depend on the structural and functional Jeune Syndrome VEPTR integrity of the rib cage and of the respiratory muscles. Any condition (congenital or acquired) that may affect either one of these components is going to have serious implications on the function of the other. Furthermore, when these abnormalities occur early in life, they may affect the growth of the lungs themselves. The followingarticlereviewsthe physiology of the respiratory pump, providesa comprehensive list of conditions that affect the thorax and describes their effect(s) on lung growth and function.
    [Show full text]
  • Shprintzen-Goldberg Syndrome
    Shprintzen-Goldberg syndrome Description Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes ( exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward. People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility). People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability. Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome.
    [Show full text]
  • A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
    G C A T T A C G G C A T genes Article A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita Xenia Latypova 1, Stefan Giovanni Creadore 2, Noémi Dahan-Oliel 3,4, Anxhela Gjyshi Gustafson 2, Steven Wei-Hung Hwang 5, Tanya Bedard 6, Kamran Shazand 2, Harold J. P. van Bosse 5 , Philip F. Giampietro 7,* and Klaus Dieterich 8,* 1 Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France; [email protected] 2 Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA; [email protected] (S.G.C.); [email protected] (A.G.G.); [email protected] (K.S.) 3 Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada; [email protected] 4 School of Physical & Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada 5 Shriners Hospitals for Children, Philadelphia, PA 19140, USA; [email protected] (S.W.-H.H.); [email protected] (H.J.P.v.B.) 6 Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Edmonton, AB T5J 3E4, Canada; [email protected] 7 Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA 8 Institut of Advanced Biosciences, Université Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, 38000 Grenoble, France * Correspondence: [email protected] (P.F.G.); [email protected] (K.D.) Citation: Latypova, X.; Creadore, S.G.; Dahan-Oliel, N.; Gustafson, Abstract: Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized A.G.; Wei-Hung Hwang, S.; Bedard, by the presence of non-progressive congenital contractures in multiple body areas.
    [Show full text]
  • Current Management of Pectus Excavatum: a Review and Update of Therapy and Treatment Recommendations
    J Am Board Fam Med: first published as 10.3122/jabfm.2010.02.090234 on 5 March 2010. Downloaded from CLINICAL REVIEWS Current Management of Pectus Excavatum: A Review and Update of Therapy and Treatment Recommendations Dawn Jaroszewski, MD, David Notrica, MD, Lisa McMahon, MD, D. Eric Steidley, MD, and Claude Deschamps, MD Pectus excavatum (PE) is a posterior depression of the sternum and adjacent costal cartilages and is frequently seen by primary care providers. PE accounts for >90% of congenital chest wall deformities. Patients with PE are often dismissed by physicians as having an inconsequential problem; however, it can be more than a cosmetic deformity. Severe cases can cause cardiopulmonary impairment and physi- ologic limitations. Evidence continues to present that these physiologic impairments may worsen as the patient ages. Data reports improved cardiopulmonary function after repair and marked improvement in psychosocial function. More recent consensus by both the pediatric and thoracic surgical communities validates surgical repair of the significant PE and contradicts arguments that repair is primarily cos- metic. We performed a review of the current literature and treatment recommendations for patients with PE deformities. (J Am Board Fam Med 2010;23:230–239.) Keywords: Pectus Excavatum, Chest Wall Deformities, Congenital Defects, Cardiovascular Disorders, Musculoskel- etal and Connective Tissue, Review copyright. Pectus chest deformities are among the most com- netic link has not been identified.4,6–8 Disturbances mon major congenital anomalies found in patients in the growth of the sternum and costal arches, as in the United States. They occur in approximately well as biomechanical factors, are suspected in the 1 of every 300 to 400 white male births.1–3 Men are pathogenesis.1,2,4,6,9–11 The involved cartilages can afflicted 5 times more often than women.2,4 The be fused, deformed, or rotated.
    [Show full text]
  • Congenital Contractural Arachnodactyly; Two Unrelated Newborns with Novel Clinical Findings
    Brief Report / Kısa Rapor Congenital Contractural Arachnodactyly; two unrelated newborns with novel clinical findings İbrahim Akalın1,2, Didem Armangil3, Esad Köklü3 1Trabzon Women’s and Children’s Hospital, ABSTRACT Genetic Diseases Diagnosis Center, Trabzon, Congenital Contractural Arachnodactyly (CCA; Beals syndrome) is a rare auto- Turkey. somal dominant disorder of connective tissue. CCA represents similar pheno- 2 Istanbul Medeniyet University, Goztepe typical features of Marfan syndrome such as tall stature and arachnodactyly, Training & Research Hospital, Medical Ge- with contrasting multiple joint contractures involving elbows, knees and even netics. İstanbul, Turkey fingers with typical crumpled ear helices. Here, we present two separate new- 3Trabzon Women’s and Children’s Hospital, borns representing novel findings such as retinal hemorrhage, bilateral sim- Neonatalogy Unit, Trabzon, Turkey. ian lines and cryptorchism in addition to classical findings. However, pedigree analyses of patients were suggesting somatic mosaicism in addition to the rep- resented distinct features of Beals syndrome; one with milder phenotype and even lack of typical crumpled ear helices, and the other with severe vertebral findings such as kyphoscoliosis. Key words: Beals syndrome, Marfan syndrome, arachnodactyly, retinal hemorrhage, kyphoscoliosis Eur J Basic Med Sci 2012;2(2):50-55 Received: 24.04.2012 Konjenital Kontraktürel Araknodaktili; yeni klinik bulgular içeren iki farklı yenidoğan olgu Accepted: 25.04.2012 ÖZET Congenital Contractural Arachnodactyly (CCA; Beals syndrome) otozomal rese- sif geçişli nadir bir bağ doku hastalığıdır. CCA, uzun boy ve araknodaktili gibi Marfan sendromundakine benzer klinik özellikler ile farklı olarak dirsek, diz ve hatta parmakları içeren çoklu eklem kontraktürleri ile tipik buruşuk kulak kepçesi görünümü sergiler. Biz bu yazımızda klasik bulgularına ek olarak reti- nal kanama, bilateral simian çizgiler ve kriptorşizm bulguları olan iki akraba olmayan yenidoğanı sunmaktayız.
    [Show full text]