Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.

Abstract

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.

• Authors: M L Guion-Almeida, A Richieri-Costa
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 9 Issue 4 Pg. 297-9 (Oct 2000) ISSN: 0962-8827 [Print] England
• PMID: 11045592 (Publication Type: Case Reports, Letter)

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics, pathology)
• Amniotic Band Syndrome (pathology)
• Face (abnormalities)
• Genes, Recessive
• Humans
• Infant, Newborn
• Male
• Microcephaly (pathology)
• Polydactyly (pathology)
• Radiography