نتایج جستجو برای: facial dysmorphism

تعداد نتایج: 60752  

2011
RP Khubchandani RP Hasija M Dewoolkar

Description A 10 year old female, born of third degree consanguinity was referred for abnormal skeletal findings and suspected arthritis. On examination she had camptodactyly of all digits. Facial dysmorphism, camptodactyly, skeletal findings and subnormal intelligence were suggestive of the Guadalajara Syndrome. Facial dysmorphism (midfacial hypoplasia, hypertelorism, long neck, small, posteri...

Journal: :Clinical genetics 2017
Y A Zarate L Kalsner A Basinger J R Jones C Li M Szybowska Z L Xu S Vergano A R Caffrey C V Gonzalez H Dubbs E Zackai F Millan A Telegrafi B Baskin R Person J L Fish D B Everman

SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, and 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohor...

Journal: :Nanoscale 2015
Aibing Chen Yifeng Yu Rujie Wang Yunhong Yu Wenwei Zang Pei Tang Ding Ma

A nanocasting method to fabricate nitrogen-doped dual mesoporous carbon is proposed by the carbonization of nitrile functional ionic liquid (FIL) grafted SBA-15 for the first time. These carbon materials have high nitrogen content (12.8%), large specific surface areas (763 m(2) g(-1)) and uniform rod morphologies, which are derived from FILs grafted on the surface of SBA-15. Furthermore, by adj...

Journal: :International journal of advanced research 2023

Sanjad-Sakati Syndrome, also referred to as Hypoparathyroidism-Retardation-Dysmorphism Syndrome or Middle East was first reported in Saudi Arabia 1988 and later a definitive report by (Sanjad et al.) 1991. It is rare autosomal recessive condition almost exclusively the Arab population. The characterized an extensive array of symptoms, including congenital hypoparathyroidism, severe growth devel...

Journal: :international journal of pediatrics 0
nilay ranjan bagchi associate professor of pediatrics, medical college hospital, kolkata, india. susanta bhanja rmo cum clinical tutor of pediatrics, medical college hospital, kolkata, india.

introduction cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). it mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. case report we present here a one year old child who did not presented with typical features but presented with recurre...

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