Results 101 to 110 of about 6,061 (174)

Acrodermatitis continua of Hallopeau: clinical perspectives. [PDF]

, 2019
Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular eruption of one or more digits. The condition presents with tender pustules and underlying erythema on the tip of a digit, more frequently arising on a finger than a toe.
Beck, Kristen M, Bhutani, Tina, Liao, Wilson, Ly, Karen, Smith, Mary Patricia, Thibodeaux, Quinn   +5 more
core  

A Case of Complex Syndactyly with Apert Syndrome Treated with a Two-stage Interdigital Reconstruction Using Adipose Flaps

Journal of Plastic and Reconstructive Surgery
Apert syndrome is one of the most challenging congenital hand disorders to treat due to the absence of skin and soft tissues and the complex osseous fusion morphology.
Ayaka Kitada, Takatoshi Yotsuyanagi, Jiro Harada, Naohiro Ueda, Asako Miyabayashi, Shinji Kato, Ken Yamashita   +6 more
doaj  

Oro facial digital syndrome type 2- An Indian case report

Journal of Pediatric Critical Care, 2016
The oral-facial-digital syndromes (OFDS) are rare genetic heterogenous group of disorders characterized by oral (mouth and teeth), facial and digital (fingers and toes) anomalies. OFDS are classified into 13 potential forms.
Naresh Bansal, Ashok Gupta, Manisha Goyal, Manish Sharma, Priyanshu Mathur, Manish Agarwal   +5 more
doaj   +1 more source

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. [PDF]

, 2020
PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types ...
Ahituv, Nadav, Chen, Tao, Gao, Bo, Li, Quan-Zhen, Li, Yongyong, Lian, Chengjie, Liao, Zhiheng, Malik, Sajid, Mohan, Chandra, Sharma, Swarkar, Su, Deying, Su, Peiqiang, Wang, Tingting, Xing, Chao, Xu, Caixia, Yan, Mei, Yang, Xiaoming, Zhong, Dongmei, Zhou, Hang, Zhou, Taifeng   +19 more
core  

Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy [PDF]

, 2018
Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene,
Benz, Rudolf, Fehr, Joerg, Goede, Jeroen, Heimpel, Hermann, Schwarz, Klaus   +4 more
core  

Syndactyly

, 2021
Daniel J. Jordan, Kavish Maheshwari, Rakhee Nayar, Sandip Hindocha   +3 more
openaire   +2 more sources

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome

Frontiers in Pediatrics
Apert syndrome is a severe autosomal dominant disorder caused by recurrent FGFR2 mutations, characterized by the prenatal triad of craniosynostosis, midface hypoplasia, and symmetric syndactyly.
Hong Li, Junling Shen, Mei Tang, Siran Wan, Shunhong Zhang   +4 more
doaj   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, Volume 36, Issue 3, Page 326-328, March 2026.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

VACTERL association [PDF]

, 2010
VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac ...
Rabah, SM, Salati, SA
core   +1 more source

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source