Results 41 to 50 of about 2,906,821 (168)

Amniotic band syndrome: A case report and review of literature

Journal of the Scientific Society, 2018
Amniotic band syndrome is a rare disorder with reported incidence of 1 in 15000. The spectrum of the presentation includes a simple Streeter band on one side to multiple anomalies including craniofacial malformation.
Karthik Srevatsa, Manasi Gosavi, Pratap Kangle Ranjit, Krutika Mihirkumar Joshi   +3 more
doaj   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Genetics and Molecular Biology, 2006
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco, Paulo A. Otto, Iguatemy L. Brunetti, Vania M. Cruzes, Danilo Moretti-Ferreira   +4 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Syndactyly genes and classification: a mini review

, 2018
Syndactyly (Syn = together; Dactylos = digits) is the most common limb defect mostly characterized by webbing of digits. It may be webbing with or without bony fusion and inherited mostly in autosomal dominant manner, although also reported as autosomal ...
Safdar Abbas, Muhammad Umair, Muhammad Bilal, Farooq Ahmad   +3 more
core   +1 more source

The Congenital Malformations in White Pregnant Mice Fetus Induced by Metformin Drug During 6-18 Days of Gestation

Ibn Al-Haitham Journal for Pure and Applied Sciences, 2018
     The metformin drug  is anti-hyperglycemia  and known to cross the placenta  which leads to the fetus during pregnancy .The aim of this study is to  define the drug  effects in the fetus growth . The doses  used , therapeutic dose ( 0.18 & 0.53 ) mg\
Faeza Nasir Toama, Aziz Khalid Hamid, Aziz Khalid Hamid, Asmat Jamal Jameel   +3 more
doaj   +1 more source

Evidence for a Role of Hox2 in Atrial Siphon Fusion of the Ascidian Ciona

Development, Growth &Differentiation, Volume 68, Issue 8, October 2026.
ABSTRACT The hallmark of sessile adult ascidians is a vase‐like shape with a single oral and atrial siphon. Ciona, however, develops two atrial siphons after metamorphosis, which subsequently fuse into one. The mechanisms underlying this fusion are unknown. This study suggests that Hox2 controls this process.
Yurong Liu, Keita Yoshida, Akiko Hozumi, Kosuke Itagaki, Nicholas Treen, Tetsushi Sakuma, Takashi Yamamoto, Toshinori Endo, Yasunori Sasakura   +8 more
wiley   +1 more source

Radiographic and computed tomographic evaluation and gait analysis of Brazilian minipigs with syndactyly

, 2016
OBJECTIVE To characterize a population of Brazilian minipigs with naturally occur­ring syndactyly by use of plain radiographs and CT images and to evalu­ate kinetic and temporospatial variables by use of a pressure-sensing walkway.
Doiche, Danuta P. [UNESP], Babicsak, Vivian R. [UNESP], Agostinho, Felipe S. [UNESP], Teixeira, Carlos R. [UNESP], Rahal, Sheila C. [UNESP], Justolin, Pedro L. T. [UNESP], Mamprim, Maria J. [UNESP], Doiche, Danuta P., Mamprim, Maria J., Agostinho, Felipe S., Justolin, Pedro L. T., Babicsak, Vivian R., Rahal, Sheila C., Teixeira, Carlos R.   +13 more
core   +1 more source

Clinical Management and Treatment of Polydactyly

Turkish Journal of Plastic Surgery, 2017
Objective: Polydactyly is one of the most common congenital anomalies of the hand and foot, and was first recorded in the hand in 1670. The extra digit rarely contains bone, and instead usually presents as a small piece of soft tissue.
Uğur Horoz, Buğçe Ballıoğlu, Hülda Rıfat Özakpınar, Emre İnözü, Avni Tolga Eryılmaz, Ali Teoman Tellioğlu   +5 more
doaj   +1 more source

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, Volume 200, Issue 9, Page 2099-2105, September 2026.
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