Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.
Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.
Ward
J R
JR
Clinical Genetics Section, Complejo Hospitalario Metropolitano de la Caja del Seguro Social Arnulfo Arias M, Panama City, Panama.
Saad de Owens
C
C
Sierra
I A
IA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001132:Arm / Q000002:abnormalities*; D002648:Child; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome