Selective IgG2 subclass deficiency - a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema

1997 ◽  
Vol 6 (2) ◽  
pp. 139???146 ◽  
Author(s):  
S. B. AINSWORTH ◽  
M. BARAITSER ◽  
R. F. MUELLER ◽  
R. F. MASSEY
Keyword(s):  
Developmental Delay ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Dental Anomalies ◽  
Postnatal Growth Retardation ◽  
Subclass Deficiency

scholarly journals 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Adrian Mc Cormack ◽  
Cynthia Sharpe ◽  
Nerine Gregersen ◽  
Warwick Smith ◽  
Ian Hayes ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Growth Retardation ◽  
Case Series ◽  
Postnatal Growth ◽  
Additional Case ◽  
Postnatal Growth Retardation ◽  
Growth Profile ◽  
Severe Short Stature

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of theHMGA2gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of theHMGA2gene and shows a much better growth profile, but with absolute macrocephaly. This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation

2012 ◽  
Vol 77 (2) ◽  
pp. 246-254 ◽  
Author(s):  
Yuki Kawashima ◽  
Katsumi Higaki ◽  
Toshiaki Fukushima ◽  
Fumihiko Hakuno ◽  
Jun-ichi Nagaishi ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Postnatal Growth Retardation ◽  
Igf I

PRENATAL AND POSTNATAL DEVELOPMENTAL CONSEQUENCES OF MATERNAL PHENYLKETONURIA

PEDIATRICS ◽  
1966 ◽  
Vol 37 (6) ◽  
pp. 979-986
Author(s):  
Robert O. Fisch ◽  
William A. Walker ◽  
John A. Anderson
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Detrimental Effect ◽  
Postnatal Growth ◽  
Maternal Phenylketonuria ◽  
Phenylalanine Level ◽  
Postnatal Growth Retardation ◽  
Intrauterine Growth ◽  
Prenatal Growth ◽  
Abnormal Metabolism

Two children, one homozygous and the other heterozygous for phenylketonuria, born of an untreated phenylketonuric mother were found to exhibit intrauterine growth retardation and persistent postnatal growth retardation. Microcephaly was present in both children at birth. Microcephaly, mental retardation, and growth retardation were present in the heterozygous child at 5 years of age and in the untreated homozygous child at 2 years of age. The possibility that the comparatively high phenylalanine level in the mother's blood and the concomitant abnormal metabolism had a detrimental effect on the child's prenatal growth and predetermined the rate of their postnatal physical as well as mental development, was discussed.

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