Growth charts for 22q11 deletion syndrome.
نویسندگان
چکیده
The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi-parametric model with goodness-of-fit tests. The resulting charts show that between 25 and 50% of children with 22q11.2 deletion syndrome fall below the 2nd centile for the normal population for all growth parameters. Establishing norms of growth for 22q11.2 deletion syndrome allows the clinician to identify and investigate those children who deviate substantially from the growth profile of this condition.
منابع مشابه
Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR.
The 22q11 deletion syndrome has been described by the acronym “CATCH 22” (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions). Previous studies have indicated that other features such as growth retardation, developmental delay, renal abnormalities, psychiatric problems, and neurological abnormalities may also be associated with th...
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عنوان ژورنال:
- American journal of medical genetics. Part A
دوره 158A 11 شماره
صفحات -
تاریخ انتشار 2012