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PMID:8291537

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Citation

Jackson, L, Kline, AD, Barr, MA and Koch, S (1993) de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47:940-6

Abstract

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Links

PubMed Online version:10.1002/ajmg.1320470703

Keywords

Adolescent; Adult; Cause of Death; Child; Child, Preschool; De Lange Syndrome/diagnosis; De Lange Syndrome/genetics; Digestive System Abnormalities; Eye Abnormalities/genetics; Face/abnormalities; Female; Heart Defects, Congenital/genetics; Humans; Infant; Infant, Newborn; Limb Deformities, Congenital; Male; Urogenital Abnormalities

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:NIPBL

involved_in

GO:0035115: embryonic forelimb morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0003007: heart morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0007420: brain development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0042471: ear morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0048557: embryonic digestive tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0048592: eye morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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