An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly.
Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations were found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.
Khaldi
F
F
Hôpital d'Enfants, Bab Sâadoun, Tunis, Tunisia.
Bennaceur
B
B
Hammou
A
A
Hamza
M
M
Gharbi
H A
HA
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D005385:Fingers / Q000002:abnormalities*; D005660:Funnel Chest / Q000235:genetics; D005808:Genes, Recessive; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D011859:Radiography