Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 288-291

  Martínez Frías, María Luisa ^a,c,d   Fernández Toral, Joaquín ^b   López Grondona, Fermina ^a   Mendioroz, Jacobo ^a   Bermejo, Eva ^a  

^a MINISTERIO DE SANIDAD Y CONSUMO   (Spain)

^b UNIVERSITY OF OVIEDO   (Spain)

^c UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Digits anomalies; Facial anomalies; Growth deficiency; Retarded bone age; Short hands; Short stature

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE AGE; BRACHYDACTYLY; CASE REPORT; EAR MALFORMATION; FACE MALFORMATION; FAMILY; FEMALE; FINGER MALFORMATION; FOOT MALFORMATION; FRIAS SYNDROME; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; FACE; FAMILY HEALTH; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, DOMINANT; GROWTH DISORDERS; HUMANS; MALE; PEDIGREE; SYNDROME;

EID: 24344466829     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30875     Document Type: Article

References (3)

1. Frías JL, Guttery EG, Felman AH. 1975. Growth deficiency, facial dysmorphogenesis and brachydactyly: A new syndrome. BDOAS 11:30-33.
2. Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL. 2001. Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect. Am J Med Genet 99:261-269.
3. Martínez-Frías ML, Prieto D, Prieto L, Bermejo E, Rodriguez-Pinilla E, Cuevas L. 2004. Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain. Birth Defects Res Part A Clin Mol Teratol 70(2):75-81.