Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Am J Med Genet A
; 185(4): 1105-1112, 2021 04.
Article
en En
| MEDLINE
| ID: mdl-33496066
ABSTRACT
Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short-limbs, craniofacial, oro-dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant and recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes and genotypes of four children with RS from different Indian families. Sequence variants were identified in genes ROR2, DVL1, and DVL3. Our results expand the mutational spectrum of RS and we also highlight the radiological changes in the radius and ulna in patients with ROR2 sequence variants which are primarily characteristic for ROR2 related RS but have been reported in WNT5A related RS.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Urogenitales
/
Deformidades Congénitas de las Extremidades
/
Anomalías Craneofaciales
/
Enanismo
/
Receptores Huérfanos Similares al Receptor Tirosina Quinasa
/
Proteínas Dishevelled
/
Proteína Wnt-5a
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
India