Ontology highlight
ABSTRACT:
SUBMITTER: Mumtaz S
PROVIDER: S-EPMC4744317 | biostudies-literature | 2015 Nov-Dec
REPOSITORIES: biostudies-literature
Pakistan journal of medical sciences 20151101 6
Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the c ...[more]