Results 61 to 70 of about 436,684 (219)

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

Case Reports in Genetics, 2019
8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism.
Alejandra Rincon, Paola Paez-Rojas, Fernando Suárez-Obando   +2 more
doaj   +1 more source

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

Frontiers in Genetics, 2022
Background: Coffin–Lowry syndrome (CLS) [OMIM#303600] is a rare X-linked dominant syndrome. CLS is caused by highly heterogeneous loss-of-function mutations in the RPS6KA3 gene (OMIM*300,075).
Yan Cong, Hongxing Jin, Ke Wu, Hao Wang, Dong Wang   +4 more
doaj   +1 more source

Lissencephaly and facial dysmorphism: is it Miller–Dieker syndrome? [PDF]

Neurology and Clinical Neuroscience, 2013
An 8-month-old girl presented with developmental delay and flexor jerks for the past 2 months. Examination showed unusual facial characteristics, such as bitemporal hollowing, prominent upper lip, high arched palate and retrognathia (Fig. 1a), microcephaly, spasticity, brisk muscle stretch reflexes and flexor-infantile spasms.
Arushi Gahlot Saini, Pratibha Singhi, Jitendra Kumar Sahu, Sameer Vyas   +3 more
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Case Report: Potocki-Lupski Syndrome in Five Siblings

Frontiers in Pediatrics, 2021
Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities.
Alina Grama, Alina Grama, Claudia Sîrbe, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop, Tudor Lucian Pop   +10 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Orphanet Journal of Rare Diseases, 2014
BackgroundCongenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999.
P. Laššuthová, D. Šišková, J. Haberlova, I. Sakmaryová, A. Filouš, P. Seeman   +5 more
semanticscholar   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novo NLRP3 variant

中国当代儿科杂志
A 16-day-old male infant was hospitalized because of recurrent fever with rash for 14 days, unresponsive to anti-infective therapy. Clinical features included persistently elevated inflammatory markers, multisystem involvement (skin, nervous system, and ...
GAO Fu-Hua, TANG Zhong-Feng, SONG Jia-Wei, ZHANG Wen-Bo, YANG Lei   +4 more
doaj   +1 more source