A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation, and ptosis

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 947-949

  Utine, Gülen Eda ^a   Breckpot, Jeroen ^b   Thienpont, Bernard ^b   Alanay, Yasemin ^a   Aksoy, Cemalettin ^a   Boduroǧlu, Koray ^a   Devriendt, Koenraad ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Mental retardation and ptosis; Microcephaly; Short stature; Tsukahara syndrome; Type A1 brachydactyly

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; FEMALE; HAND RADIOGRAPHY; HUMAN; KARYOTYPE; KARYOTYPING; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; TSUKAHARA SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HEARING LOSS; HIP; HUMANS; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; MICROCEPHALY; ORBITAL DISEASES; PREGNANCY; SCOLIOSIS; SYNDROME;

EID: 77950435013     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33325     Document Type: Article

References (1)

1. Tsukahara M, Azuno Y, Kajii T. 1989. Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly and mental retardation. Am J Med Genet 33:7-9.