Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.

Abstract

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.A number of syndromes are characterised by radial ray defects, deafness, ear abnormalities, and heart defects, which may be autosomal, sex linked, multifactorial, chromosomal, or teratogenic. We present two sibs with upper A limb malformations, retarded skeletal maturation, poorly developed antihelices, developmental delay, central hearing deficit, and bilateral choroid coloboma. The identification of this association will assist in genetic counselling.

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

“…While bilateral coloboma, deafness, and cleft palate are typical of Zunich neuroectodermal syndrome [Zunich et al, 1988], its autosomal recessive inheritance and severe neurological involvement with early-onset migratory ichthyosiform dermatosis distinguish it from the manifestations observed in this family. Another likely autosomal recessive disorder with coloboma, deafness, as well as severe developmental delay and upper limb defects appears to be a distinct entity [Ward et al, 1992]. Similarly, the family reported by Richieri-Costa and Guion-Almeida [1992] has phenotypic similarities such as coloboma and cleft lip/palate, although there are facial abnormalities as well as microbrachycephaly which distinguish it from the family reported here.…”