Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.
We report a Brazilian boy, born to consanguineous parents. On the left arm there was a proximal 'ring shaped' constriction, regional aplasia cutis, and a short hand with markedly hypoplastic fingers and nails 2-3. He also had a bilateral cleft lip/palate, preaxial polydactyly involving the distal phalanx of the left index finger, and a supernumerary nipple on the right. The differential diagnosis is discussed.
Guion-Almeida
M L
ML
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D000652:Amniotic Band Syndrome / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D017689:Polydactyly / Q000473:pathology*; D011859:Radiography