Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.
A second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup-shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30-33), although with variable expressivity.
Martínez-Frías
María Luisa
ML
Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. mlmartinez.frias@isciii.es
Toral
Joaquín Fernández
JF
López-Grondona
Fermina
F
Mendioroz
Jacobo
J
Bermejo
Eva
E
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology*; D005799:Genes, Dominant / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome