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.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM