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Indian J Dermatol Venereol Leprol. 2005 Jul-Aug;71(4):279-81.

Focal dermal hypoplasia (Goltz syndrome).

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1
Departments of Dermatology, Medical College, Calicut, Kerala, India. saif_gem@hotmail.com

Abstract

A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.

PMID:
16394441
[Indexed for MEDLINE]
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