Aase-Smith syndrome type II

Aase-Smith syndrome type II is rare in childhood and there are few reported cases. Here, we report an 8-month-old boy with congenital red cell aplasia and triphalangeal thumbs. In addition to thumb anomalies, he presented with growth failure, hypertelorism and novel osseous radiologic abnormalities,...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Saudi medical journal 2004-12, Vol.25 (12), p.2004-2006
Hauptverfasser:	SOKER, Murat, AYYILDIZ, Orhan, ISIKDOGAN, Abdurrahman
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Anemia, Diamond-Blackfan - diagnostic imaging Anemia, Diamond-Blackfan - genetics Anemia, Diamond-Blackfan - therapy Anti-Inflammatory Agents - therapeutic use Biological and medical sciences Chromosome Aberrations Erythrocyte Transfusion General aspects Genes, Recessive Hand Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - genetics Humans Infant Male Medical sciences Micrognathism - genetics Pregnenediones - therapeutic use Radiography Red-Cell Aplasia, Pure - diagnostic imaging Red-Cell Aplasia, Pure - genetics Red-Cell Aplasia, Pure - therapy Syndrome Thumb - abnormalities Thumb - diagnostic imaging
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Aase-Smith syndrome type II is rare in childhood and there are few reported cases. Here, we report an 8-month-old boy with congenital red cell aplasia and triphalangeal thumbs. In addition to thumb anomalies, he presented with growth failure, hypertelorism and novel osseous radiologic abnormalities, large fontanelles and micrognathia as extraordinary. Some clinical symptoms had complete clinical remission with deflazacort treatment.
ISSN:	0379-5284