| Literature DB >> 14708109 |
Hala Mégarbané1, Cynthia Zablit, Naji Waked, Gérard Lefranc, Roland Tomb, André Mégarbané.
Abstract
Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes. Copyright 2003 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2004 PMID: 14708109 DOI: 10.1002/ajmg.a.20352
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802