Results 111 to 120 of about 2,928 (214)

Poster Session 2

open access: yes
Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

open access: yesBMC Pediatrics
Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies.
Jing Zheng   +5 more
doaj   +1 more source

A South Australian population-based study of congenital talipes equinovarus

open access: yes, 2005
The aims of this study were to provide a population-based prevalence for congenital talipes equinovarus (CTEV), to conduct an epidemiological investigation into the risk factors for CTEV and describe associated features.
Cundy, P.   +8 more
core   +1 more source

Facial features in children with idiopathic congenital talipes equinovarus.

open access: yes, 2009
We assessed whether there is a recognisable pattern of facial morphology in photographs of a series of 62 children with idiopathic congenital talipes equinovarus (CTEV).
Chesney D   +5 more
core  

Community Awareness of Congenital Talipes Equinovarus (Clubfoot) in Makkah Region, Saudi Arabia: A Cross-Sectional Study. [PDF]

open access: yesCureus, 2022
Alosaimi MA   +7 more
europepmc   +1 more source

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

open access: yesZdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer   +4 more
doaj  

The outcomes of idiopathic congenital talipes equinovarus : a core outcome set for research and treatment. [PDF]

open access: yesBone Jt Open, 2022
Gelfer Y   +5 more
europepmc   +1 more source

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