PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 2260587

C syndrome with apparently normal development.

R F Stratton·N J Sykes·T W Hassler
View original source ↗Export metadata ↓

Abstract

C syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8-month-old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.

Explore related subjects

Abnormalities, MultipleCognitionCraniosynostosesFemaleGenes, RecessiveHumansInfantIntellectual DisabilityPalatePsychomotor PerformanceSkullSyndromeCase ReportsJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

R F Stratton, N J Sykes, T W Hassler. 1990. C syndrome with apparently normal development.. https://doi.org/10.1002/ajmg.1320370406

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2005

[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis].

Niikawa-Kuroki syndrome (Kabuki make-up syndrome) is a congenital disorder with characteristic facial features and possibly anomalies of the skeletal system and internal organs. There is an increasing number of reports of patients with combined hearing impairment, inner ear deformities or sensorineural hearing impairment. In addition, the patients often suffer from therapy-resistant chronic otitis media. In addition to multiple cardiac and renal deformities, our 3 year old patient has a hearing impairment due to chronic otitis media with chronic otorrhea, and requires a hearing aid. A high-definition CT scan of the petrosal bone revealed, for the first time in a patient with Niikawa-Kuroki syndrome, a large vestibular aqueduct syndrome and deformities of the vestibular system. We examine the problems involved with treating chronic otorrhea in chronic otitis media and providing patients with BTE hearing aids.

Abnormalities, Multiple↗