Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome).
Since the first description by Catel and Manzke of hyperphalangy and clinodactyly of the index finger associated with Robin malformation sequence, seven further cases have been published. In two families more than one case occurred. Another family is presented with possibly two affected boys showing variable features of the syndrome. It is proposed that the trait is X-chromosomal, recessively inherited.
D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000502:physiology