A Rare Case Of Shprintzen-Goldberg Syndrome.

Brachycephaly; Cleftpalate; Craniosynostosis Cryptorchidism; Hypertelorism; Uvula

Journal

Journal of Ayub Medical College, Abbottabad : JAMC
ISSN: 1819-2718
Titre abrégé: J Ayub Med Coll Abbottabad
Pays: Pakistan
ID NLM: 8910750

Informations de publication

Date de publication:
Historique:
entrez: 28 3 2021
pubmed: 29 3 2021
medline: 16 6 2021
Statut: ppublish

Résumé

Shprintzen-Goldberg syndrome is a relatively rare congenital connective tissue type of disorder with a constellation of dysmorphic features including craniosynostosis, craniofacial, skeletal, cardiovascular and neurological abnormalities. We present the case-report of a 5-year-old boy with Shprintzen-Goldberg syndrome and a brief review of literature pertaining to this condition. The patients with Shprintzen-Goldberg syndrome show a considerable phenotypic overlap with other craniosynostosis syndromes. So, a meticulous evaluation of these patients should be performed for a prudent diagnosis. Since these patients present with multiple systemic conditions,a multidisciplinary approach should be planned for their management.

Identifiants

pubmed: 33774974
pii: xxxxxxxxx

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

155-158

Auteurs

Parvathy Chitran (P)

Ophthalmology Department, Amanat Eye Hospital, Islamabad, Pakistan.

Leela Sreekantan Nair Sreela (LS)

Ophthalmology Department, Amanat Eye Hospital, Islamabad, Pakistan.

Philips Mathew (P)

Ophthalmology Department, Amanat Eye Hospital, Islamabad, Pakistan.

Twinkle S Prasad (TS)

Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam, India.

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