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The Wolf‐Hirschhorn (4p‐) syndrome
Author(s) -
Johnson Virginia P.,
Mulder R. D.,
Hosen Richard
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00021.x
Subject(s) - psychomotor retardation , sibling , pediatrics , microcephaly , growth retardation , medicine , decompensation , genetics , biology , pathology , pregnancy , psychology , developmental psychology , alternative medicine
In a review of 43 cases, the phenotypic spectrum of the Wolf‐Hirschhorn syndrome is analyzed and the frequency of clinical anomalies is tabulated. The characteristic features are intrauterine growth retardation, severe psychomotor retardation, typical facies, and various major and minor congenital anomalies suggestive of a midline fusion defect. Diagnosis is established by karyotyping ‐ deletion of the short arm of chromosome No. 4. All cases so far reported are de novo occurrences with no sibling involvement and normal parents. Prognosis is poor, with death in the first 2 years of life in 34 % of cases, usually due to cardiac decompensation or infection. Psychomotor retardation is profound, so that heroic medical efforts probably need to be reconsidered.