STAR syndrome plus: The first description of a female patient with the lethal form.
Am J Med Genet A
; 173(12): 3226-3230, 2017 Dec.
Article
in En
| MEDLINE
| ID: mdl-29088509
ABSTRACT
The STAR syndrome is a rare X-linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130 kb deletion at Xq28, including the FAM58A gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Anal Canal
/
Urogenital Abnormalities
/
Toes
/
Cleft Palate
/
Cyclins
/
Syndactyly
/
Hypertelorism
/
Kidney
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Newborn
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2017
Document type:
Article
Affiliation country:
Italy