Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

Autor:	G, Pierquin, R, Seligmann, N, Van Regemorter
Rok vydání:	1992
Předmět:	Male Facial Asymmetry Child Preschool Skull Infant Newborn Humans Infant Female Obesity Syndrome Acrocephalosyndactylia Child Follow-Up Studies
Zdroj:	Genetic counseling (Geneva, Switzerland). 3(2)
ISSN:	1015-8146
Popis:	In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::1e09ba3309da55ede7b9d2c6fff7aca9 https://pubmed.ncbi.nlm.nih.gov/1642806 Zobrazit plný text záznamu