Ear anomalies, clefting and limb reduction defects: a new autosomal recessive condition?
We report a pair of siblings whose common clinical features of cleft palate, hypoplastic auditory meati and preauricular skin tags suggest the common inheritance of an autosomal recessive gene despite the findings between the siblings of disparate clinical features involving the central nervous and skeletal systems.
Glass
I A
IA
Genetics Unit, Birmingham Maternity Hospital, Edgbaston, UK.
Walford-Moore
J
J
Chapman
S
S
Farndon
P A
PA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D014057:Tomography, X-Ray Computed