Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

We report a 6-year-old male of first cousin parents with the unique constel lation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-a xial polydactyly of the hand, failure to thrive, mild to moderate developme ntal delay and sociable personality. Knoblock-Layer syndrome and Smith-Leml i-Opitz syndrome were considered in the differential diagnosis and were exc luded. No similar cases were found in LDDB or other databases. Clin Dysmorp hol 10: 69-70 (C) 2001 Lippincott Williams & Wilkins.