Isolated Adrenocorticotropin Deficiency in a Child with Kabuki syndrome
โ Scribed by Ma, K.H.; Chow, S.N.; Yau, F.T.
- Book ID
- 120977128
- Publisher
- Walter de Gruyter GmbH & Co. KG
- Year
- 2005
- Tongue
- English
- Weight
- 508 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0334-018X
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A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived seque
Kabuki (Niikawa-Kuroki) syndrome (KS) comprises characteristic facial changes, developmental delay, skeletal anomalies, mental retardation, and abnormal dermatoglyphics. We report on a 5-year-old Caucasian boy with KS who required surgery for a giant left temporoparietal subarachnoid cyst at age 5 1