Details

Autor(en) / Beteiligte

• Riyaz, Najeeba
• Riyaz, A
• Chandran, Rajesh
• Rakesh, S V

Titel

Focal dermal hypoplasia (Goltz syndrome)

Ist Teil von

• Indian journal of dermatology, venereology, and leprology, 2005-07, Vol.71 (4), p.279-281

Ort / Verlag

India: Medknow Publications and Media Pvt. Ltd

Erscheinungsjahr

2005

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• 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.