hypoparathyroidism-retardation-dysmorphism syndromeAn autosomal recessive condition (OMIM:241410) characterised by congenital hypoparathyroidism, growth and mental retardation and seizures, which presents in children of consanguineous parents in the Middle East.
Caused by defects of TBCE, which encodes cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
[Sami A. Sanjad, contemporary Lebanese-born U.S. pediatrician; Nadia Awni Sakati, Syrian physician, b. 1938]
A rare autosomal recessive disorder characterized by hypoparathyroidism, intrauterine growth retardation, and facial or cranial developmental abnormalities.
Medical Dictionary, © 2009 Farlex and Partners
Sakati,Nadia, 20th century Saudi Arabian pediatrician.
Sakati syndrome - Synonym(s): Sakati-Nyhan syndrome
Sakati-Nyhan syndrome - rare syndrome, usually sporadic, featuring craniofacial defects, abnormal limbs, congenital heart defects, patchy alopecia with atrophic skin above the ears, and linear scarlike lesions in the submental areas. Synonym(s): Sakati-Nyhan-Tisdale syndrome; Sakati-syndrome
Sakati-Nyhan-Tisdale syndrome - Synonym(s): Sakati-Nyhan syndrome
Sanjad-Sakati syndrome - see under Sanjad
Sanjad-Sakati syndrome - an autosomal recessive disorder characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features.
Medical Eponyms © Farlex 2012