DOCSLIB.ORG

Lethal Neonatal Dwarfism: a Case of Achondrogenesis

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Lethal Neonatal Dwarfism: a Case of Achondrogenesis Med. J. Malaysia Voi. XXXV No. 1, September 1980 LETHAL NEONATAL DWARFISM: A CASE OF ACHONDROGENESIS MASOOD K AFZAL CHOO KENG EE SUMMARY pregnancy, she had one previous abortion. Three other children are alive and well. The parents are Achondrogenesis is a lethal neonatal chondro­ well and healthy. There was no history of dysplasia with extreme micromelia and marked congenital abnormalities. There was no antenatal discrepancy between the relatively large head and history of drugs or illness. The baby was the decreased trunk length. The affected neon­ delivered gasping and died shortly afterwards. At ates are usually delivered prematurely, and are birth the baby weighed 2 lb 8 oz and the Apgar stillborn or die soon after birth. Polyhydramnios was 2 at 1 min. The neonate had a dispropor­ is frequently present. It is an inherited autosomal tionately large head, short neck, distended recessive disease. The radiographic features are abdomen. thorax and reduction deformities of all diagnostic. limbs. The baby was markedly oedematous, (Fig. 1). Head circumference was 28.5 cm, crown­ INTRODUCTION rump length 20 cm and crown-heel length 25 cm. The thoracic circumference at the nipple was 21 OUR interest in neonatal dwarfism was aroused cm. Post-mortem of the baby was not granted by the presentation of a deformed neon ate with and we were also unable to obtain blood for short upper limbs and flapper-like lower limbs. chromosomal and viral studies. We were unable to diagnose that baby. That was three years ago, since then we have seen one case The radiographic features in this neonate are of short rib polydactyly syndrome, one case of seen in Fig. 2. There is absent ossification of the chondrodysplasia puncta or Conradi's disease and lumbar vertebrae and sacrum. The ischium and one of neonatal osteopetrosis. Our most recent pubic bones are also unossified. The iliac bones addition is a case of achondrogenesis which we are small with concave inner and inferior present here. The aim of this article is to alert margins. The tubular bones are markedly short­ paediatricians and obstetricians of neonatal dwar­ ened and show metaphyseal widening and fism so that genetic counselling to parents can be cupping. The thorax is small and barrel-shaped. done. More often than not, in pratice, such the ribs are short. The small non-ventilated babies are diagnosed as "still birth", "preterm thoracic cage contrasts with the bulging abdo­ baby with congenital deformities" or "preterm men. The skull shows good ossification and with achondroplasia". appears very large in comparison with the marked shortening of trunk and limbs. CASE REPORT The clinical and radiographic features in this newborn baby are characteristic of Achondro­ A baby girl was prematurely delivered at 28 genesis type 2(Langer-Saldino-Fraccara). The weeks gestation on 18.10.1979 to a thirty-year-old absent ossification of the lumbar vertebrae, mather (K bt. A.H.). This was her fourth sacrum, ischium and pubis with the characteristic Masood K. Afzal, MBBS, DMRD, small iliac bones with concave inner and inferior Radiologist, University Hospital, University of margins (Fig. 3) are diagnostic of achondrogene­ Malaya, Kuala Lumpur. sis. The normal ossification of the skull and the Choo Keng Ee*, MBBS, MRCP (UK) radiographic appearance of the limbs are features Paediatrician, General Hospital, Seremban consistent with type 2 (Yang, 1974). The abnor­ *Presently, Paediatrician, General Hospital, Kuala mality in type 2 appears to affect cartilage and Trengganu. tubular bones but not membraneous bones. 64 Fig.I Photograph of achondrogenlc newborn showing large head, short thick trunk and marked micromelia. Fig. 2 Achondrogenesise anterior and lateral radiographs showing non-ossification of vertebrae and pelvic bones; Fig. 3 Close-up view of pelvis showing the typical small ilia small ilia with concave inner and inferior margins; with concave inner and inferior margins which is small thorax with short ribs; prominent abdomen and diagnostic of achondrogenesls, large head with normal ossification of skull, The tubular bones of the limbs are short and show characteristic metaphyseal widening and cupping. 6S DIFFERENTIAL DIAGNOSIS baby who is short for gestational age, any baby who has disproportionate shortening of the limbs Achondrogenesis type 1 is characterised by or trunk, and in any baby with multiple poor ossification of the skull, multiple rib congenital abnormalities. There are several dif­ fractures and very short, broad bones of the ferent conditions that may produce low birth extremities with marked bowing. In short rib weight or short length for gestation infant. These polydactyly syndrome and thanatophoric dyspla­ include placental insufficiency, foetal-maternal sia there is ossification of the vertebral column endocrine defect, chromosomal abnormalities, and pelvis. The bones of the extremities have a dysmorphology syndrome, intrauterine infection, different appearance than in achondrogenesis. skeletal dysplasia, etc (Sillence, 1978). In the Severe hypophosphatasia is differentiated by the assessment of the small infant details of the absent or severely delayed ossification of the skull pregnancy, delivery, obstetric and family history and the delicate appearance of the tubular bones and the initial examination of the neonate and its with characteristic metaphyseal ossification placenta may provide a clue to the underlying defects (Spranger, 1974). Histologically achon­ cause. An accurate assessment of gestation is drogenesis type 1 is probably a primary necessary to interpret measurements of length, disorder of connective tissue and shows severe weight and head circumference· in the newborn. retardation of chondrocytic proliferation in the The mother's menstrual history may be the only physeal cartilage. On the other hand, achondro­ reliable index of gestational age. Having establi­ genesis type 2 is probably a disoder representing shed that an infant is disproportionately short, degeneration of proliderating epiphyseal cells one must determine whether the shortening with extremely dificient matrix (Yang, 1976). primarily affects the trunk or the limbs and if the Further discussion on the differential diagonsis latter whether it is proximal (rhizomelic) middle may be found in Saldino (1971) and Xanthakos segment (mesomelic) or distal (acromelic) or a et al. (1973). combination of these. GENETICS If skeletal dysplasia is suspected a proper Saldino, 1971 mentions of two families in work-up would include:- which multiple siblings were affected, one of these parents were consanguinous. He also 1. History: Family and maternal obstetric his- mentions a case where one of a pair of twins was tory, affected while the other was normal. This 2. Clinical examination strongly suggests that achondrogenesis, both 3. Clinical photographs, types, are genetically determined disorders with 4. X-lay examination: skeletal survey - baby­ an autosomal recessive mode of transmission. gram There is, therefore, one in four risk of recurrence S. Morphological studies of chodroosseous tissue: for each subsequent child of parents who have biopsy, autopsy. produced an affected infant. However, the 6. Other: Chromosome study, immune function, lethality of the condition should be stressed when biochemistry etc. counselling parents who are contemplatihg pro­ creation. Equally it should be emphasised that The evaluation of a baby with skeletal dys­ there is a three out of four chance that any plasia requires a multidisciplinary approach further offspring will be normal. utilising clinical, radiographic, genetic and mor­ phological findings. Although we still do not have DISCUSSION a satisfactory classification of skeletal dysplasia, the present one based on clinical and radiogra­ An underlying skeletal dysplasia should be phic features has evolved a concept that is suspected in the differential diagnosis of any invaluable for proper family counselling and for 66 till' medical care of the children affected, and 9. Chondroectoderrnal dysplasia or Ellis van enables a Iairlv prompt and accurate diagnosis in t rcvcld syndrome (Ev'C). most eas-es. This is the International Nomemcla­ 10. <. .nnpomclic dysplasia. ture Ior ConstitutionsI Diseases of Bone which 11.·\elwl1druplasia homozygous type. \\ as adopted in 1970 and further revised in 1977. I.:!. ( h..nd rodvplaxin punta rhizornelic type. This clnssificarion (Rimion, 1978) divides the 13. Osteogenesis imperfecta type 2 (lethal prei­ skeletal dysplasias into two major groups: The natal type). chondrodvsplasius (abnormal growth and deve­ 14. Hypophosphatasia (severe). ioprnent of cartilage and/or bone) and the 15. Congenital osteopetrosis. dvsostoses (malformations of individual bones, singlY or in combination). The short-limbed ACKNOWLEDGEMENT dwarfisrns or chondrodysplasias are subdivided into those disorders that are manifest at birth This is to acknowledge our thanks to Mr. and those that become apparent later in life. Wong Meng Lye of the Department of Medical Neonatal chondrodysplasias are again subdivided Photography, General Hospital, Seremban. into those disorders that are almost always lethal (stillborn or die soon after birth) and those in which the baby usually survives the neonatal REFERENCES period. Rimoin, D. L. (1978): International nomenclature of The disorder that comprise lethal neonatal constitutional disease of bone ..J, Paediatrics, 93: 614-616. dwarfism are:- Saldino, R. M. (1971): Lethal short limbed dwarfism: achondrogenesis and thanatophoric
Load more

Recommended publications
  • Skeletal Dysplasias
    Skeletal Dysplasias North Carolina Ultrasound Society Keisha L.B. Reddick, MD Wilmington Maternal Fetal Medicine Development of the Skeleton • 6 weeks – vertebrae • 7 weeks – skull • 8 wk – clavicle and mandible – Hyaline cartilage • Ossification – 7-12 wk – diaphysis appears – 12-16 wk metacarpals and metatarsals – 20+ wk pubis, calus, calcaneus • Visualization of epiphyseal ossification centers Epidemiology • Overall 9.1 per 1000 • Lethal 1.1 per 10,000 – Thanatophoric 1/40,000 – Osteogenesis Imperfecta 0.18 /10,000 – Campomelic 0.1 /0,000 – Achondrogenesis 0.1 /10,000 • Non-lethal – Achondroplasia 15 in 10,000 Most Common Skeletal Dysplasia • Thantophoric dysplasia 29% • Achondroplasia 15% • Osteogenesis imperfecta 14% • Achondrogenesis 9% • Campomelic dysplasia 2% Definition/Terms • Rhizomelia – proximal segment • Mezomelia –intermediate segment • Acromelia – distal segment • Micromelia – all segments • Campomelia – bowing of long bones • Preaxial – radial/thumb or tibial side • Postaxial – ulnar/little finger or fibular Long Bone Segments Counseling • Serial ultrasound • Genetic counseling • Genetic testing – Amniocentesis • Postnatal – Delivery center – Radiographs Assessment • Which segment is affected • Assessment of distal extremities • Any curvatures, fracture or clubbing noted • Are metaphyseal changes present • Hypoplastic or absent bones • Assessment of the spinal canal • Assessment of thorax. Skeletal Dysplasia Lethal Non-lethal • Thanatophoric • Achondroplasia • OI type II • OI type I, III, IV • Achondrogenesis • Hypochondroplasia
    [Show full text]
  • Current Overview of Osteogenesis Imperfecta
    medicina Review Current Overview of Osteogenesis Imperfecta Mari Deguchi *, Shunichiro Tsuji , Daisuke Katsura , Kyoko Kasahara, Fuminori Kimura and Takashi Murakami Department of Obstetrics & Gynecology, Shiga University of Medical Science, Otsu 520-2192, Shiga, Japan; [email protected] (S.T.); [email protected] (D.K.); [email protected] (K.K.); [email protected] (F.K.); [email protected] (T.M.) * Correspondence: [email protected] Abstract: Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder charac- terised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Severe or lethal OI can usually be diagnosed using antenatal ultrasound and confirmed by various imaging modalities and genetic testing. The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only detect OI accurately but also predict lethality before birth. Moreover, genetic testing, either noninvasive or invasive, can further confirm the diagnosis prenatally. Early and precise diagnoses provide parents with more time to decide on reproductive options. The currently available postnatal treatments for OI are not curative, and individuals with severe OI suffer multiple fractures and bone deformities throughout their lives. In utero mesenchymal stem cell transplantation has been drawing attention as a promising therapy for severe OI, and a clinical trial to assess the safety and efficacy of cell therapy is currently ongoing.
    [Show full text]
  • Ultrasonic Demonstration of Fetal Skeletal Dysplasia Case Reports
    222 SAMJ VOLUME 67 9 FEBRUARY 1985 Ultrasonic demonstration of fetal skeletal dysplasia Case reports L1NNIE M. MULLER, B. J. CREMIN Toshiba linear array scanners (with 3,5 mHz transducers) and a Philips SDU 7000 Sector/Static scanner. A routine obstetric Summary scan does not involve complete examination of all limbs, but Reports on prenatal diagnosis in cases of skeletal when a bony abnormality is noted a skeletal survey is dysplasia have mostly been in high-risk mothers attempted. Real-time ultrasound offers a flexible technique, with a suspect genetic background where the fetal and when the infant is in the prone vertex position the linear lesion could probably be predetermined. We deal array has the advantage of a wider range of skeletal visualiza­ with routine ultrasonographic appraisal of the fetal tion. skeleton when dysplasia is not initially suspected, A complete skeletal survey consists of an evaluation of the and relate our experience of the lethal forms of this bones of the skull, spine, thorax and limbs and of correlating these other fetal structures. We first measured the biparietal condition. During the 4-year period 1981 - 1984,6 cases of skeletal dysplasia, including thanatophoric diameter (BPD) and then noted the echogenic characteristics dysplasia, achondrogenesis, the Ellis-van Creveld of the skull and facial contours. A comprehensive evaluation of syndrome (chondro-ectodermal dysplasia) and the spine is possible from 17 weeks' gestation onwards. In a osteogenesis imperfecta, were detected; the ultra­ longitudinal plane the posterior elements form segmented sonographic findings are discussed. bands of echoes that conform to the fetal kyphosis, but it is not always possible to visualize the whole spine.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • 2 Achondrogenesis, Type IB A
    Achondrogenesis,Type IB 579 2 Achondrogenesis,Type IB A Fraccaro type Extremities • Extremely short tubular bones, with squared, Severely shortened long bones with loss of longitudi- trapezoid, or stellate appearance nal orientation; unossified fibulas; deficient ossifica- • Wide and cupped ends of the long bones, with lat- tion of vertebral bodies, pelvis, and sacrum eral spurs • Unossified fibulas Frequency: 1 in 50,000 births. Skull • Ossified or only mildly underossified calvarium Genetics Autosomal recessive (OMIM 600972), caused by mutations in the DTDST gene at 5q32-q33 Bibliography Clinical Features Beluffi G. Achondrogenesis, type I. Rofo Fortschr Geb Rönt- • Fetal hydrops, polyhydramnios genstr Nuklearmed 1977; 127: 341–4 • Borochowitz Z, Lachman R, Adominan GE, Spear G, Jones K, Premature birth, stillbirth or death within min- Rimoin DL. Achondrogenesis type I: delineation of further utes in large proportion of cases heterogeneity and identification of two distinct subgroups. • Marked micromelic dwarfism J Pediatr 1988; 112: 23–31 • Normocephaly, but head appearing large because Jaeger HJ, Schmitz-Stolbrink A, Hulde J, Novak M, Roggen- of small body kamp K, Mathias K. The boneless neonate: a severe form of • achondrogenesis type I. Pediatr Radiol 1994; 24: 319–21 Severe midface hypoplasia Maroteaux P, Lamy M: Le diagnostic des nanismes chrondro- • Low nasal bridge dystrophiques chez les nouveau-nés. Arch Fr Pediatr 1968; • Micrognathia 25: 241–62 • Short neck Spranger JW, Langer LO, Wiedemann HR. Bone dysplasias. An • Short trunk, barrel-shaped chest atlas of constitutional disorders of skeletal development. • W.B. Saunders Company, Philadelphia, 1974, pp. 24–5 Overdistended abdomen Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der • Edema of soft tissues Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lan- • Prenatal detection of micromelia by ultrasound der ES, Gitzelmann R.
    [Show full text]
  • Blueprint Genetics Comprehensive Growth Disorders / Skeletal
    Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Test code: MA4301 Is a 374 gene panel that includes assessment of non-coding variants. This panel covers the majority of the genes listed in the Nosology 2015 (PMID: 26394607) and all genes in our Malformation category that cause growth retardation, short stature or skeletal dysplasia and is therefore a powerful diagnostic tool. It is ideal for patients suspected to have a syndromic or an isolated growth disorder or a skeletal dysplasia. About Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders This panel covers a broad spectrum of diseases associated with growth retardation, short stature or skeletal dysplasia. Many of these conditions have overlapping features which can make clinical diagnosis a challenge. Genetic diagnostics is therefore the most efficient way to subtype the diseases and enable individualized treatment and management decisions. Moreover, detection of causative mutations establishes the mode of inheritance in the family which is essential for informed genetic counseling. For additional information regarding the conditions tested on this panel, please refer to the National Organization for Rare Disorders and / or GeneReviews. Availability 4 weeks Gene Set Description Genes in the Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACAN# Spondyloepimetaphyseal dysplasia, aggrecan type, AD/AR 20 56 Spondyloepiphyseal dysplasia, Kimberley
    [Show full text]
  • Osteogenesis Imperfecta: Recent Findings Shed New Light on This Once Well-Understood Condition Donald Basel, Bsc, Mbbch1, and Robert D
    COLLABORATIVE REVIEW Genetics in Medicine Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition Donald Basel, BSc, MBBCh1, and Robert D. Steiner, MD2 TABLE OF CONTENTS Overview ...........................................................................................................375 Differential diagnosis...................................................................................380 Clinical manifestations ................................................................................376 In utero..........................................................................................................380 OI type I ....................................................................................................376 Infancy and childhood................................................................................380 OI type II ...................................................................................................377 Nonaccidental trauma (child abuse) ....................................................380 OI type III ..................................................................................................377 Infantile hypophosphatasia ....................................................................380 OI type IV..................................................................................................377 Bruck syndrome .......................................................................................380 Newly described types of OI .....................................................................377
    [Show full text]
  • Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
    Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description
    [Show full text]
  • Prenatal Diagnosis, Management and Outcomes of Skeletal Dysplasia
    logy & Ob o st ec e tr n i Alouini et al., Gynecol Obstet (Sunnyvale) 2019, y c s G 9:4 Gynecology & Obstetrics ISSN: 2161-0932 Research Article Open Access Prenatal Diagnosis, Management and Outcomes of Skeletal Dysplasia Souhail Alouini1*, Jean Gabriel Martin1, Pascal Megier1 and Olga Esperandieu2 1Department of Obstetrics and Gynecology, Maternal-Foetal Medicine Unit Regional Hospital Center of Orleans, 45000, Orléans, France 2Department of Anatomie et Cytologie Pathologiques, Regional Hospital Center Of Orleans, 45000, Orléans, France *Corresponding author: Souhail Alouini, Department of Obstetrics and Gynecologic Surgery, Regional Hospital Center of Orleans, 14 Avenue de l’hospital, Orleans, 45100, France, Tel: +33688395759; E-mail: [email protected] Received date: March 02, 2019; Accepted date: May 02, 2019; Published date: May 09, 2019 Copyright: © 2019 Alouini S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Abstract Objective: To evaluate prenatal ultrasound findings of Skeletal Dysplasia (SD) and examine the contribution of radiological, histological and genetic exams. Methods: Retrospective study including all cases of SD managed in a tertiary maternity center between 1996 and 2010. Results: Eight cases of SD were diagnosed (1.4/10,000 births) by ultrasonography (USE). Three (38%) cases of SD were discovered in the first trimester, and five in the second trimester. We found short femurs in all cases. Anomalies consisted of the thickness of the femoral diaphysis, broad epiphysis, short and squat long bones, costal fractures, thinned coasts, anomalies of the profile and vertebrae, and a short and narrow thorax.
    [Show full text]
  • Discover Dysplasias Gene Panel
    Discover Dysplasias Gene Panel Discover Dysplasias tests 109 genes associated with skeletal dysplasias. This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis. Refer to lab reports in connection with potential diagnoses. Some genes below may also be associated with non-skeletal dysplasia disorders; those non-skeletal dysplasia disorders are not included on this list. Skeletal Disorders Tested Gene Condition(s) Inheritance ACP5 Spondyloenchondrodysplasia with immune dysregulation (SED) AR ADAMTS10 Weill-Marchesani syndrome (WMS) AR AGPS Rhizomelic chondrodysplasia punctata type 3 (RCDP) AR ALPL Hypophosphatasia AD/AR ANKH Craniometaphyseal dysplasia (CMD) AD Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy ARSB syndrome AR ARSE Chondrodysplasia punctata XLR Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) B3GALT6 Ehlers-Danlos syndrome progeroid type 2 (EDSP2) AR Multiple joint dislocations, short stature and craniofacial dysmorphism with B3GAT3 or without congenital heart defects (JDSCD) AR Spondyloepimetaphyseal dysplasia (SEMD) Thoracic aortic aneurysm and dissection (TADD), with or without additional BGN features, also known as Meester-Loeys syndrome XL Short stature, facial dysmorphism, and skeletal anomalies with or without BMP2 cardiac anomalies AD Acromesomelic dysplasia AR Brachydactyly type A2 AD BMPR1B Brachydactyly type A1 AD Desbuquois dysplasia CANT1 Multiple epiphyseal dysplasia (MED) AR CDC45 Meier-Gorlin syndrome AR This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis.
    [Show full text]
  • Boomerang Dysplasia in a Chinese Female Fetus
    HK J Paediatr (new series) 2006;11:324-326 Boomerang Dysplasia in a Chinese Female Fetus ACF LAM, SJ HU, TMF TONG, STS LAM Abstract Boomerang dysplasia (BD) was first described by Kozlowski et al in 1981; and is a form of neonatally lethal chondrodysplasia. The name itself vividly described its characteristic radiographic features, and the importance of recognising these features has major implication in genetic counselling. All, except two reported cases of BD were males. We here reported the third female case of Boomerang dysplasia in literature. Key words Boomerang dysplasia; FLNB gene; Skeletal dysplasia Introduction sporadic and the incidence of BD was estimated to be 1/1,222,698 live born infants.4 Boomerang dysplasia (BD) is a very rare perinatally Autosomal recessive spondylocarpotarsal syndrome, lethal skeletal dysplasia that was first reported by Kozlowski atelosteogenesis type I and III, dominant form Larsen et al in 1981,1 and is characterised by decreased ossification syndrome, and BD formed a spectrum of skeletal dysplasia of cranium and vertebral bodies, incomplete or absent with overlapping clinical phenotypes (Table 1). They shared ossification of long bones that are characteristically curved a common pathogenesis in vertebral segmentation, joint to give this condition its name. Vertebral ossification defect formation and endochondral ossification.5 In 2004, Krakow is most commonly found in the thoracic region, giving the et al5 identified mutations in the Filamin B (FLNB) gene in appearance of "hour glass' with associated wavy ribs. the first four conditions. In July 2005, Bicknell et al6 Histologically, it is characterised by the presence of reported FLNB gene mutations in two unrelated patients multinucleated giant chondrocytes in resting cartilage.
    [Show full text]
  • Syndrome of the Month J Med Genet: First Published As 10.1136/Jmg.33.11.957 on 1 November 1996
    J Med Genet 1996;33:957-961 957 Syndrome of the month J Med Genet: first published as 10.1136/jmg.33.11.957 on 1 November 1996. Downloaded from Achondrogenesis type 1B Andrea Superti-Furga Historical notes which tried to provide a quantitative basis (the In 1952, the name achondrogenesis (Greek for "femoral cylinder index") for qualitative "not producing cartilage") was given by Marco changes, did not prove helpful and was later Fraccaro, a young Italian pathologist (later to abandoned. In the late 1980s, it was shown become a well known cytogeneticist), to the that achondrogenesis type II was caused by condition he observed in a stillborn female structural mutations in collagen II and thus with severe micromelia and marked histological constituted the severe end of the spectrum of changes of cartilage.' Fraccaro noted a similar the collagen II chondrodysplasias.l'" case published by Parenti in 1936.2 Fraccaro's Borochowitz et al'4 provided convincing report (written in Italian) came to the know- histological criteria for the further subdivision ledge ofHans Grebe, who in 1939 had observed of achondrogenesis type I into IA (with ap- sisters (aged 7 and 11 years, born to con- parently normal cartilage matrix but inclusions sanguineous parents from the Black Forest re- in chondrocytes) and IB (with abnormal car- gion of Germany) with markedly short limbs tilage matrix; see below). These findings were and digits but normal trunk. Grebe became confirmed by another group shortly there- convinced that his patients were affected by after.'5 Using
    [Show full text]