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Index A Acrodysostosis, 527, 538 Aarskog syndrome, 527, 537 Acrofacial dysostosis 1, 580–581 differentiated from Opitz G/BBB Acrofacial dysplasia, 563 syndrome, 458 Acro-fronto-facio-nasal dysostosis Aase-Smith syndrome, 527 syndrome, 527, 538–539 Aase syndrome, 527, 537 Acromegaloid facial appearance Abducens nerve. See Cranial nerve VI syndrome, 527, 539 Abduction, Möbius sequence-related Acromegaloid phenotype-cutis verticis impairment of, 197, 198 gyrata-cornea leukoma, 527, 539 Abetalipoproteinemia, 527, 537 Acromesomelic dysplasia, Maroteaux- Ablepharon-macrostomia syndrome, Martinelli-Campailla type, 527, 527, 538 539 Abortion, spontaneous, chromosomal Acromicric dysplasia, 527, 539 abnormalities associated with, 83 Acro-osteolysis syndrome, 565 Abruzzo-Erickson syndrome, 527, 538 Acro-reno-ocular syndrome, 527, Acanthosis, 607 539 Acanthosis nigricans, Crouzon Acyclovir, 504, 505, 518 syndrome-related, 169 Adam complex, 207–209 Physician-parent interactions, Adams-Oliver syndrome, 527, 540 69–70 Adduction, Möbius sequence-related Acetyl-coenzyme A deficiency, 364 impairment of, 197, 198 N-Acetylcystine, 321 Adenoma sebaceum, tuberous sclerosis N-Acetyl galactosamine-4-sulfatase complex-related, 304, 308–309 deficiency, 366 Adrenocorticotropic hormone, 433 N-Acetyl galactosamine-6-sulfatase Aging, premature. See also Progeria deficiency, 357, 365 ataxia-telangiectasia-related, 320 a-N-Acetyl glucosaminidase acetyl Aglossia-adactyly syndrome, 584–585 transferase deficiency, 357 Agnathia-holoprosencephaly, 54 a-N-Acetyl glucosaminidase deficiency, Aicardi’s syndrome, 178, 430–434, 527, 357, 364 540 Acid sphingomyelinase deficiency, clinical assessment of, 431–433 379 clinical features of, 430–431 Acrocallosal syndrome, 527, 538 etiology of, 430 Schnizel type, 527 genetic factors in, 433 Acrocephalopolydactylous dysplasia, prognosis for, 434 527, 538 systemic associations of, 431–433 Acrocephalopolysyndactyly treatment of, 433–434 type 2, 168 Alagille syndrome, 527 type 3, 590–591 Albers-Schonberg disease type 4, 564 (osteopetrosis), 271–272 611 612 index Albinism, 249–252, 393–399 Angelman syndrome, 527, 554 definition of, 249, 393 oculocutaneous albinism ocular, 249–251, 393, 394, 397 associated with, 459, 461 Nettleship-Falls type of, 394, Angiogenesis, retinal, 27–28 397 Angiography, fluorescein, use in oculocutaneous (OCA), 393, craniosynostosis evaluation, 158 394–397 Angioid streaks, pseudoxanthoma Angelman syndrome-related, elasticum-related, 228 459, 461 Angiokeratoma corporis diffusum “brown,” 396 universale, 386 Prader-Willi syndrome-related, Angiomas, facial, Sturge-Weber 459, 461 syndrome-related, 322, 324, 325, type 1, 394–395 326–327 type 2, 394, 395–396, 396 Angiomatosis retinae, 311 type 3, 394 Angiomyolipomas, vascular, tuberous tyrosinase-negative, 249 sclerosis complex-related, 309, 311 Albright hereditary osteodystrophy, Angio-osteohypertrophy syndrome, 527, 540 527, 572 Alcohol-related birth defects (ARBD), Angiosarcomas, Aicardi’s syndrome- 188 related, 433 Alkaptonuria, 252, 253 Aniridia Alopecia ocular anomalies associated with, Hallermann-Streiff syndrome- 36 related, 192 Wilms’ tumor-related, 148 syphilis-related, 492–493 Aniridia-cerebellar ataxia-mental Alport’s syndrome, 434–437 deficiency, 563 Alström’s syndrome, 437–439 Barbara, Anisometropia be sure in text the dots are over the o craniosynostosis-related, 161 in alstrom’s Goldenhar’s syndrome-related, Amacrine cells, 26 184–185 Amantadine, as ataxia-telangiectasia Ankyloblepharon-ectodermal dysplasia- treatment, 321 clefting syndrome, 527, 566 Amaurosis, Leber’s congenital, 36, Anophthalmia, 33 573 amniotic band sequence-related, differentiated from Alström’s 208–209 syndrome, 438 Goldenhar’s syndrome-related, 185 Amblyopia with limb anomalies, 528, 540 Brachmann-de Lange syndrome- Anterior segment dysgenesis, 46, 47–48 related, 440, 442 fetal alcohol syndrome-related, craniosynostosis-related, 158, 161 189, 190 Goldenhar’s syndrome-related, microphthalmia-related, 33 184–185, 185 ocular albinism-related, 399 Marfan syndrome-related, 235 ocular anomalies associated with, toxocariasis-related, 495, 497 33, 34, 36 Amniotic band syndrome, 207–209 as Rieger’s anomaly, 36, 48 Amniotic rupture sequence, 207–209 Antihelminthic therapy, for Amniotic sac, premature rupture of, toxocariasis, 496–497 207–209 Antley-Bixler syndrome, 528, 540–541 Amoxicillin, 489 Anus, ectopic or imperforated, 458 Anencephaly (exencephaly), 54 Apert syndrome, 162, 164–167, 169, definition of, 607 527, 528, 541 Aneuploidy, definition of, 83, 85 Aplasia cutis congenita, 607 Aneuploidy syndromes, 119–121 Apraxia, ocular motor, 318, 320 index 613 AP-2 transcription factor, 16 Awareness, in physician-parent Aqueous humor, production of, 22 interactions, 69 Arachnodactyly, 607 Axenfeld-Rieger anomalies, 528 Marfan syndrome-related, 233 with atrial septal defect and Argyria, 607 sensorineural hearing loss, 542 Arhinencephaly, 607 autosomal dominant Arteriohepatic dysplasia, 528, 541 iridogoniodysgenesis, 34 Arteriovenous malformations with partially absent eye muscles, Klippel-Trenaunay syndrome- 542 related, 330 Axenfeld’s anomaly, 47 Wyburn-Mason syndrome-related, albinism-related, 399 331–332, 333–334 Arthritis, Lyme disease-related, 488, B 489 Bacterial diseases Arthrochalasia multiplex congenital, cat-scratch disease, 483–486 559 Lyme disease, 486–489 Arthrogryposis, 607 syphilis, 489–493 Arthro-ophthalmopathy, hereditary, Baller-Gerold syndrome, 542–543 progressive, Stickler type, 528, Banding, chromosomal, 79–80, 87 596–597 Bannayan-Riley-Ruvalcaba syndrome, Arylsulfatase A deficiency, 377 543 Arylsulfatase A gene, 377–378 Bardet-Biedl syndrome, 437–438, 543 Ascorbic acid, as alkaptonuria differentiated from Cohen treatment, 253 syndrome, 239 Ashkenazi Jews Barkan’s membrane, 48 Niemann-Pick disease in, 380 persistence of, 23 Tay-Sachs disease in, 368 Bartonella henselae, as cat-scratch Ash-leaf spots, tuberous sclerosis disease cause, 483, 484, 485, 486 complex-related, 309 Basal cell nevus syndrome, 34 Asphyxiating thoracic dystrophy, 528, Bathocephaly, 607 570 Batten disease. See Neuronal ceroid- Association, definition of, 147, 148 lipofuscinosis Astigmatism Batten-Spielmeyer-Vogt disease, 391 Goldenhar’s syndrome-related, 186 BBB syndrome, 456 mandibulofacial dysostosis-related, Beals’ syndrome, 543–544 180 Beckwith-Wiedemann syndrome, 544 Astrocytomas, giant cell, 307, 310 Berardinelli-lipodystrophy syndrome, Ataxia, ataxia-telangiectasia-related, 544 320, 321 Berman’s syndrome, 594 Ataxia-telangiectasia, 318–321, 528, Bernheimer-Seitberger disease, 563 542 Beta-glucuronidase deficiency, 580 etiology of, 318 Birds, embryonic development in, 10 ophthalmologic features of, Blastocysts, 1, 2 318–320 Bleeding diatheses, Hermansky-Pudlak treatment of, 321 syndrome-related, 396–397 Atresia, choanal, CHARGE association- Blepharitis, Brachmann-de Lange related, 148 syndrome-related, 440, 442 Atrioventricular blocks, Lyme disease- Blepharoconjunctivitis, herpes simplex related, 488 virus-related, 502 ATR-X syndrome, 528 Blepharo-nasofacial syndrome, 173 Auditory canal, hyperostosis of, 340 Blepharophimosis, 39 Autosomal dominant disorders, 77 Blepharophimosis syndrome, 544–545 Autosomal recessive disorders, 77 Blepharoptosis, 87 614 index Blindness. See also Visual loss/ periventricular, lymphocytic impairment choriomeningitis virus-related, Crouzon syndrome-related, 169 506 reconstructive facial surgery- Campomelic dysplasia, 546 related, 163–164 Camptodactyly, 607 referrals and information resources oculo-dento-osseous dysplasia- regarding, 72 related, 270 toxocariasis-related, 493 Camurati-Engelmann syndrome, 546 Bloch-Sulzberger syndrome. See Cancer Incontinentia pigmenti referrals and information resources BMP4 gene, 15 regarding, 71 Bone marrow transplantation relationship with syndromes, 148 as Gaucher’s disease treatment, Canthal distances, measurement of, 383 152, 153–154 as Krabbe’s disease treatment, 386 Cardiac-limb syndrome, 566 Borjeson-Forssman-Lehmann syndrome, Cardio-facio-cutaneous syndrome, 546 545 Cardiomyopathy, infantile, Alström Borrelia burgdorferi, as Lyme disease syndrome-related, 438 cause, 486, 487–488 Carpal tunnel syndrome, 361, 362, 366 Borreliosis, Lyme. See Lyme disease Carpenter syndrome, 168–169, 527, 546 Boston-type craniosynostosis, 545 Cataracts Bourneville’s disease, 304 Alström syndrome-related, 438 Bowman’s capsule, 21 anterior polar, 19, 20, 21 Brachmann-de Lange syndrome, 439– branchio-oculo-facial syndrome- 442, 545 related, 443 clinical features of, 440–442 chondrodysplasia punctata-related, treatment of, 442 246 Brachycephaly, 156, 607 Cockayne syndrome-related, 453 Carpenter’s syndrome-related, 168 Cohen syndrome-related, 240 Brain, embryonic development of, 5, 8, craniosynostosis-related, 162 9, 10 galactosemic, 410–411 Brain tumors, tuberous sclerosis genetic factors in, 37 complex-related, 309 glaucoma-related, 37 Branchial arch anomalies, 186 Klippel-Trenaunay syndrome- Branchio-oculo-facial syndrome, 442– related, 328 446, 545–546 Marfan syndrome-related, 236 Branchio-oto-renal (BOR) syndrome, 34, microphthalmia-related, 33 446, 577 Morquio syndrome-related, 366 Breastfeeding, syphilis transmission nonocular anomalies associated during, 490 with, 35 Brittle-cornea syndrome, 230, 232 oculo-dento-osseous dysplasia- related, 271 C Prader-Willi syndrome-related, 459 Café au lait spots rubella-related, 511 neurofibromatosis type 1-related, sunflower, Wilson’s disease-related, 294, 298 352 treatment of, 299 syphilis-related, 490 Watson
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  • Genetics of Congenital Hand Anomalies

    Genetics of Congenital Hand Anomalies

    G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights.
  • A Case Report of Rare Sex Chromosomal Aneuploidy: 48,XXXY/49,XXXXY Rao Swathi S 1, Arumugam Meenakshi 2, Shetty Prashanth D 3, Shenoy Vijaya D 4

    A Case Report of Rare Sex Chromosomal Aneuploidy: 48,XXXY/49,XXXXY Rao Swathi S 1, Arumugam Meenakshi 2, Shetty Prashanth D 3, Shenoy Vijaya D 4

    Corresponding Author: Dr. Rohit David, MBBS, Post Graduate Resident in Department of Community Medicine, Christian Medical College and Hospital, Ludhiana, Punjab. E-mail: [email protected] www.ijrhs.com Case Report ISSN (o):2321–7251 A case report of rare sex chromosomal aneuploidy: 48,XXXY/49,XXXXY Rao Swathi S 1, Arumugam Meenakshi 2, Shetty Prashanth D 3, Shenoy Vijaya D 4 1. MBBS, DNB(Paediatrics), Senior Resident, Department of Paediatrics. 2. MSc Biotechnology, Lecturer/Research Associate, Diagnostic Centre for Cytogenetics and Molecular genetics. 3. PhD, Professor/ Coordinator, Diagnostic Centre for Cytogenetics and Molecular genetics. 4. MBBS, DCH, MD(Paediatrics),Professor/Head of the Department, Department of Paediatrics. Corresponding Author: Dr Swathi S Rao, 23-13/23(1), Shivakripa, Koragappa Compound, 3 rd Cross Kapikad, Ullal, Mangalore- 575020 . Email: [email protected] Abstract: The sex chromosome aneuploidy 49,XXXXY is a rare syndrome characterized by mental retardation, severe speech impairment, multiple skeletal defects, genital abnormalities and subtle dysmorphic features. The incidence of 48,XXXY/49,XXXXY is very rare and to our knowledge only few reports of mosaicism have been reported so far but with different cell line proportions. We describe a case with 48,XXXY[16]/49,XXXXY[4] mosaicism in a four year old boy with microcephaly, short stature, expressive speech delay, and clinodactyly. Karyotyping showed mosaicism with 48XXXY[16]/49XXXXY[4] and was confirmed by FISH analysis. Key words: Short stature; Expressive speech delay; Sex chromosomal aneuploidy Key Messages: Case History: Males with subtle dysmorphism and A four year old phenotypically male, was expressive speech delay are candidates for referred for evaluation of his speech delay.