Kleefstra Syndrome.
J Coll Physicians Surg Pak
; 32(4): S76-S78, 2022 Apr.
Article
en En
| MEDLINE
| ID: mdl-35633020
ABSTRACT
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, prognathism, lip and eyebrow shape anomalies. The true prevalence of KS is unknown, but it is estimated that it occurs with a frequency of 1/200.000 in cases with mental retardation. On literature search, approximately 110 patients have been reported so far. Genetic analysis should be planned and interdisciplinary monitoring should be provided in cases suspected to have KS. Key Words Child, Genetic disorder, Kleefstra Syndrome, Dysmorphism.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Craneofaciales
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
J Coll Physicians Surg Pak
Asunto de la revista:
MEDICINA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Turquía