Results 61 to 70 of about 16,390 (254)

Oculodentodigital dysplasia

Indian Journal of Ophthalmology, 2016
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene.
Dharmil C Doshi, Purvi K Limdi, Nilesh V Parekh, Neepa R Gohil   +3 more
doaj   +1 more source

Fraser of cryptophthalmosis syndrome: A case report [PDF]

, 2004
Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B., Golalipour, M.-J., Haidary, K., Khoury, E.   +3 more
core  

Fraser syndrome: case report [PDF]

, 2008
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Chaves, Alessandra Pinheiro, Lima, Humberto Castro, Lopes, Tâmara, Pinheiro, Regina Helena Rathsam, Saraceno, Janaína   +4 more
core   +2 more sources

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Penatalaksanaan Anestesi pada Pasien dengan Sindroma Apert yang Dilakukan Suturektomi

Jurnal Neuroanestesi Indonesia, 2013
Sindroma Apert adalah suatu gangguan genetik yang ditandai dengan penggabungan tulang yang terlalu dini (kraniosinostosis). Penggabungan dini tersebut menghambat pertumbuhan normal tulang dan mempengaruhi pertumbuhan bentuk kepala dan wajah. Penggabungan
Iwan Abdul Rachman, Iwan Fuadi, Eri Surahman   +2 more
doaj   +1 more source

FRASER SYNDROME: A CASE REPORT

Khyber Medical University Journal, 2021
Fraser syndrome (cryptophthalmos syndrome) is a congenital anomaly in which cryptophthalmos is the main feature. Other malformations can include syndactyly, craniofacial and urogenital anomalies.
Madiha Waseem, Hira Waseem, Muhammad Naveed Khani   +2 more
doaj   +1 more source

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. [PDF]

, 2016
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the ...
Farkas, Katalin, Horváth, Emese, Knox, Rachel, Nagy, Nikoletta, Parker, Victoria, Semple, Robert, Sulák, Adrien, Széll, Márta, Tripolszki, Kornélia   +8 more
core   +3 more sources

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management

Indian Journal of Ophthalmology, 2022
Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous.
Deepsekhar Das, Sujeeth Modaboyina, Sahil Agrawal, Neelam Pushker, Rachna Meel, Mandeep S Bajaj   +5 more
doaj   +1 more source

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly [PDF]

, 2022
Junichi Ozawa, Seiko Ohno, Dario Melgari, Qi Wang, Megumi Fukuyama, Futoshi Toyoda, Takeru Makiyama, Masao Yoshinaga, Hiroshi Suzuki, Akihiko Saitoh, Tomohiko Ai, Minoru Horie   +11 more
openalex   +1 more source