Ectrodactyly/split hand feet malformation
نویسندگان
چکیده
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
منابع مشابه
Ectrodactyly or Lobster Claw Syndrome ,
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form We report a case of autosomal dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the mal...
متن کاملSplit hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization.
The split hand/split foot malformation (SHFM), which is also known as ectrodactyly, is a limb malformation syndrome involving the central rays of the hand or foot. The typical SHFM may present with syndactyly; median clefts of the hands and feet; and aplasia or hypoplasia (or both) of the phalanges, metacarpals, and metatarsals. Numerous human gene defects can cause SHFMs. For example, the SHFM...
متن کاملEctrodactyly and prenatal diagnosis.
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...
متن کاملFamilial ectrodactyly syndrome in a nigerian child: a case report.
Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial d...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
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