Results 21 to 30 of about 50,678 (282)

Congenital Bilateral Radio-Humeral Synostosis*

open access: yesIndian Journal of Plastic Surgery, 1990
A rare case of congenital bilateral undifferentiated elbow with radiohumeral synostosis, with bilateral absence of ulnar ray components in the forearm and hand, with deformities of hands i.e.
V.N.S. Yadav, B. Mall
doaj   +1 more source

Microsurgical reconstruction of congenital upper extremity deformities of malformations

open access: yesClinical Case Reports, 2020
We present two rare microsurgical reconstructions. A case with phocomelia was treated with lengthening of soft tissues following vascularized fibula grafting with epiphysis, and a case with cleft hand was reconstructed with spare‐part toe transfer.
K. Takamoto, T. Tsai
semanticscholar   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

open access: yesHepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid   +20 more
wiley   +1 more source

Klippel–Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review

open access: yesCase Reports in Orthopedics, 2018
Introduction. Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development.
John W. Stelzer   +5 more
doaj   +1 more source

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

open access: yesFrontiers in Cardiovascular Medicine, 2021
Purpose: This study aims to identify genetic lesions in patients with congenital heart disease (CHD) with or without other phenotypes. In this study, over 400 patients were recruited and several novel variants in known causative genes were identified.
Zhuang-Zhuang Yuan   +8 more
doaj   +1 more source

Amniotic band syndrome [PDF]

open access: yesPerspectives In Medical Research, 2018
Amniotic band syndrome (ABS) is a well-described clinical entity, which includes several congenital deformities. Misdiagnosis is common for this entity. Incidence being 1 in 12000 births. Hand malformations and limb defects are frequent ,constriction
K S K Divya1 ,Vivekanand Achanta2
doaj  

Congenital hand anomalies in Upper Egypt

open access: yesIndian Journal of Plastic Surgery, 2016
Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient’s life.
Tarek Abulezz   +3 more
doaj   +1 more source

A Case Report of Primary Hypertrophic Osteoarthropathy

open access: yes罕见病研究
Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14.
ZHAO Zongxuan   +7 more
doaj   +1 more source

Methods for Congenital Thumb Hypoplasia Reconstruction. A Review of the Outcomes for Ten Years of Surgical Treatment

open access: yesMedicina, 2019
Background and objectives: Congenital thumb hypoplasia is a rare deformity of upper extremity. The incidence for thumb hypoplasia grade II−V is 1:10,000 newborns per year in Latvia.
Dzintars Ozols   +2 more
doaj   +1 more source

Delayed presentation of ulnar drift of the hand; A case report

open access: yesJPRAS Open
Purpose of paper: To present a case of delayed presentation of congenital ulnar drift of the hand. Background: Congenital ulnar drift, frequently known as windblown hand, represents ulnar deviation of fingers with or without other malformations that are ...
Aeshah Abdulrahman Aljayban   +1 more
doaj   +1 more source

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