ABSTRACT
The authors report on a child with bilateral typical split-hand (ectrodactyly) and tibial aplasia, probably the first Indian report. Minor limb malformations in the maternal side suggests an autosomal dominant inheritance. The clinical spectrum and the inheritance of this malformation are discussed. Prenatal screening in families with such malformations is essential.
Subject(s)
Child , Female , Genes, Dominant , Hand Deformities, Congenital/complications , Humans , India , Penetrance , Tibia/abnormalitiesABSTRACT
Two new cases with the Tel-Hashomer camptodactyly syndrome have been ascertained in an Indian family. This report emphasizes the autosomal recessive nature of disease and documents an additional feature of hirsuitism not previously described. The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world.
Subject(s)
Abnormalities, Multiple/genetics , Adult , DNA-Binding Proteins/genetics , Female , Hand Deformities, Congenital/complications , Hirsutism/complications , Humans , Nuclear Proteins/genetics , Proto-Oncogene Proteins c-ets , Repressor Proteins/genetics , Siblings , SyndromeABSTRACT
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.
Subject(s)
Abnormalities, Multiple/diagnosis , Cathepsins/genetics , Child , Craniofacial Dysostosis/complications , Female , Follow-Up Studies , Hand Deformities, Congenital/complications , Hepatomegaly/complications , Humans , Risk Assessment , Splenomegaly/complicationsABSTRACT
A síndrome da banda de constrição congênita é uma patologia rara, de ocorrência ocasional na natureza e não existe predisposição genética. É freqüentemente associada a amputações de dedos ou membros, sindactilia, acrossindactilia (sindactilia fenestrada), mal formações em face, tórax e/ou abdômen. O presente trabalho representa nossa experiência na abordagem e tratamento da Síndrome da Banda de Constrição Congênita. Foram tratados 10 pacientes atendidos em nosso serviço em um período de 20 anos.