Two patients with Kabuki syndrome presenting with endocrine problems

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 2, 2001, Pages 215-220

  Bereket, A ^a   Turan, S ^a   Alper, G ^a   Comu, S ^a   Alpay, H ^a   Akalin, F ^a  

^a MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Hypoglycemia; Kabuki syndrome; Malformation; Mental retardation; Premature thelarche

Indexed keywords

3 HYDROXYBUTYRIC ACID; AMINO ACID; ESTRADIOL; FATTY ACID; FOLLITROPIN; GLUCOSE; GROWTH HORMONE; HYDROCORTISONE; INSULIN; LACTIC ACID; LUTEINIZING HORMONE;

ALOPECIA AREATA; ARTICLE; BREAST; CASE REPORT; CHILD; CHILD DEVELOPMENT; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; ENDOCRINE DISEASE; EYELASH; FEEDING; FEMALE; FINGER; HIGH ARCHED PALATE; HORMONE BLOOD LEVEL; HUMAN; HYPERPIGMENTATION; HYPOGLYCEMIA; JOINT HYPERMOBILITY; KABUKI MAKEUP SYNDROME; MALE; MENTAL DEFICIENCY; NERVOUS SYSTEM DEVELOPMENT; ORBIT; OTITIS MEDIA; PNEUMONIA; POLYCYTHEMIA; PRECOCIOUS PUBERTY; PTOSIS; SCLERA DISEASE; SEIZURE; SKIN DEFECT; TOOTH MALFORMATION; UMBILICAL HERNIA; URINARY TRACT MALFORMATION;

EID: 0035093617     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2001.14.2.215     Document Type: Article

References (14)

1. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
2. Kabuki make-up syndrome: A syndrome of mental retardation, unusual faces, large and protruding ears, and postnatal growth deficiency
3. Phenotypic spectrum and management issues in Kabuki syndrome
4. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
5. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese cases
6. Thirteen cases of Niikawa-Kuroki syndrome: Reports and review with emphasis on medical complications and preventive management
7. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients
8. Epilepsy and polymicrogyria Kabuki make-up (Niikawa-Kuroki) syndrome
9. Kabuki make-up syndrome and report of a case with hydro-cephalus
10. CNS malformation in a child with Kabuki make-up (Niikawa-Kuroki) syndrome: Report and review
11. Ectodermal abnormalities in Kabuki syndrome
12. Dominant inheritance of Kabuki make-up syndrome
13. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q1l.2
14. Premature thelarche in Kabuki make-up syndrome