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Am J Med Genet A. 2004 Jan 30;124A(3):323-7.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

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1
Service de Dermatologie, Hôtel-Dieu de France, Beirut, Lebanon. megarban@dm.net.lb

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.

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PMID:
14708109
DOI:
10.1002/ajmg.a.20352
[Indexed for MEDLINE]

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