Literature DB >> 215412

Pre and post axial polysyndactyly, microcephaly and ptosis.

D Engelhard, S Yatziv.   

Abstract

A five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1. To our knowledge, a similar case has not been reported previously.

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Year:  1979        PMID: 215412     DOI: 10.1007/bf00441898

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  2 in total

1.  OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT.

Authors:  T KUSHNICK; T P MASSA; R BAUKEMA
Journal:  J Pediatr       Date:  1963-12       Impact factor: 4.406

2.  Genetic and clinical heterogeneity in the oral-facial-digital syndromes.

Authors:  D L Rimoin; M T Edgerton
Journal:  J Pediatr       Date:  1967-07       Impact factor: 4.406

  2 in total

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