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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Many other syndromes can have SHFM within their spectrum, including a number of chromosomal anomalies, such as trisomies 13 and 18 (pp. 582, 586), and partial trisomies or monosomies scattered through many chromosomal loci. Patterson-Stevenson-Fontaine syndrome also shows mandibulofacial dysostosis. Ulnar-mammary syndrome: shows posterior limb defects, hypoplasia of mammary gland, abnormal dentition, and genital anomalies; caused by dominant mutations in TBX3. Adams-Oliver syndrome: transverse limb defects associated with aplasia cutis, usually limited to the scalp vertex, occasionally presents with vascular defects and cardiac malformations. Cenani-Lenz syndactyly syndrome: also called ‘total syndactyly’, shows a total fusion of fingers and toes, extensive fusion of carpals and metacarpals with single, partial or complete radioulnar synostosis, brachymesomelia; due to recessive mutations in LRP4. Tibial aplasia with SHFM: also shows bilateral aplasia of the tibiae, distal hypoplasia or bifurcation of femora, aplasia or hypoplasia of ulnae, aplasia of patellae; maps to chromosomes 1q42.2-q43, 6q14.1 and 17p13.3. Recently a predisposing microduplication encompassing BHLHA9 on 17p13.3 has been described. Cornelia de Lange syndrome (p. 454); CCGE (Cleft palate, Cardiac defect, Genital anomalies, Ectrodactyly): a very rare and severe disorder, brain anomalies can be present, early lethality has been reported in the few described cases. Goltz syndrome: the hallmark is focal dermal hypoplasia, which can be extensive and spreads on all the body surface; associated features include ocular anomalies (coloboma of iris and choroid, microphthalmia), hypoplastic teeth, striated bones, cardiac malformations and intellectual impairment. X-linked dominant, caused by mutations in PORCN; lethal in utero in males. SHFM has also been reported in severe cases of Smith–Lemli–Opitz syndrome and VACTERL association (p. 590); in these cases the multiple malformation pattern is striking and usually allows the correct diagnosis to be made.
A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2
Published in Ophthalmic Genetics, 2020
Tariq Alzahem, Abrar K. Alsalamah, Marco Mura, Sulaiman M. Alsulaiman
Adams–Oliver syndrome (AOS) is a rare congenital disorder that was first described in 1945 (1). It is characterized by a combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). Multiorgan involvement in the form of brain anomalies, epilepsy/seizures, developmental delay, cardiovascular anomalies, cutis marmorata telangiectatica congenita (CMTC), and ocular involvement were previously reported (2). The clinical presentation has varying degrees of severity and occurs in different combinations, resulting in a wide range of phenotypic expression.