Results 51 to 60 of about 15,172 (214)

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia [PDF]

, 2013
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Almeida, S, Amaral, C, Chen, I, Gowrishankar, K, Hu, Y, Passos-Bueno, MR, Reichenberger, E, Tiziani, V   +7 more
core   +3 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Apert syndrome: a case report

National Journal of Clinical Anatomy, 2015
Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj   +1 more source

Gene mapping in syndactyly families [PDF]

, 2005
Non-syndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and/or toes. It has a prevalence of 3 per 10,000 births. The malformation can be unilateral or bilateral, and the fusion within the web may be cutaneous or bony ...
Koch, Manuela C. (Prof. Dr. med.), Malik, Sajid Perwaiz   +1 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Clinical Features of Syndactyly and Surgical Treatment of Associated Complications

Turkish Journal of Plastic Surgery
Introduction: Syndactyly is a common congenital deformity with an incidence of 1/2000–3000 with a male predominance. Several surgical approaches were described for various clinical presentations.
Alper Geyik, Ozge Eren, Esra Aydın, Mustafa Yilmaz   +3 more
doaj   +1 more source

Surgical treatment of syndactilia and our results

Acta Orthopaedica et Traumatologica Turcica, 2021
Between the years 1992 - 1996, 16 patients with 33 syndactyly webs had undergone surgery at our institution. The digits seperated by multiple zig-zag incisions. For web reconstruction, Bauer s dorsal rectanguler flap is used. Mean follow-up period was 15,
Taskin Altay, Haluk Altiok, Ahmet Kaya, M. Rifki Us, Hasan Ozturk   +4 more
doaj  

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Treatment of congenital deformities of cleft foot and syndactyly: A case report and review of the literature

Turkish Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot.
Nuh Evin, Yasir Vural, Can Koç, Gökçer Uzer   +3 more
doaj   +1 more source