Results 281 to 290 of about 454,061 (340)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto   +52 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Anogenital distance on MRI does not correlate to surgical diagnosis of endometriosis in patients without prior abdominal surgery. [PDF]

open access: yesSci Rep
Harth S   +7 more
europepmc   +1 more source

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