Ontology highlight
ABSTRACT:
SUBMITTER: Girisha KM
PROVIDER: S-EPMC4970677 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Girisha Katta Mohan KM Kortüm Fanny F Shah Hitesh H Alawi Malik M Dalal Ashwin A Bhavani Gandham SriLakshmi GS Kutsche Kerstin K
European journal of human genetics : EJHG 20151216 8
We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncharacterized SEMD with laxity and dislocations. This condition has clinical overlap with autosomal dominantly inherited SEMD with joint laxity, leptodactylic type caused by recurrent missense variants i ...[more]