Genitopatellar syndrome: A recognizable phenotype

American Journal of Medical Genetics

Volumn 111, Issue 3, 2002, Pages 313-315

  Reardon, William ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Arthrogryposis; Corpus callosum; Genital malformations; Mental retardation; Patella; Scrotal hypoplasia

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE ASSOCIATION; FAMILIAL DISEASE; GENITAL MALFORMATION; HUMAN; INFANT; INHERITANCE; JOINT DISLOCATION; KIDNEY MALFORMATION; MALE; MENTAL DEFICIENCY; PATELLA; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; SCROTUM DISORDER; CONGENITAL MALFORMATION; CORPUS CALLOSUM; GENETICS; GENITAL SYSTEM DISEASE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; SCROTUM;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CASE REPORT; CORPUS CALLOSUM; GENITAL DISEASES, MALE; HUMAN; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; PATELLA; SCROTUM; HUMANS;

EID: 0037101864     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10590     Document Type: Article

References (6)

1. The small patella syndrome: Description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome
2. Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism and mental retardation
3. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes
4. Localization of a gene for familial patella aplasiahypoplasia (PTLAH) to chromosome 17q21-22
5. Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: Expansion of the phenotype?