Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?

1998 ◽  
Vol 7 (4) ◽  
pp. 275-277
Author(s):  
J P Fryns ◽  
L Lagae ◽  
W B Rizzo
Keyword(s):  
Mental Retardation ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Postnatal Growth Retardation ◽  
Moderate Mental Retardation ◽  
Postaxial Polydactyly

scholarly journals Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Meera Sandhu ◽  
Pooja Malik ◽  
Rooposhi Saha
Keyword(s):  
Mental Retardation ◽  
Growth Retardation ◽  
Autosomal Recessive ◽  
Phenotypic Expression ◽  
Postnatal Growth ◽  
Severe Mental Retardation ◽  
Postnatal Growth Retardation ◽  
Dental Abnormalities ◽  
Minor Anomalies ◽  
Autosomal Recessive Condition

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to severe mental retardation. In addition, there is a mildly dysmorphic face along with ocular and a number of dental abnormalities. Radiologically, hands demonstrate bony syndactyly, without any hypoplasia of bones. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.

scholarly journals Cornelia de Lange syndrome in children

2016 ◽  
pp. 102-107
Author(s):  
T. E. Bubnevich
Keyword(s):  
Mental Retardation ◽  
Upper Limb ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Malformation Syndrome ◽  
Postnatal Growth Retardation ◽  
Live Births ◽  
Cornelia De Lange

Cornelia de Lange syndrome is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, thin lips, «carp» mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there are clinical options with milder phenotypes in this syndrome. The prevalence of the syndrome is 1:10,000-30,000 live births, occurs equally, regardless of gender. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed.

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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