Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

2010 ◽  
Vol 152A (3) ◽  
pp. 539-546 ◽  
Author(s):  
Sérgio B. Sousa ◽  
Geneviéve Baujat ◽  
Véronique Abadie ◽  
Damien Bonnet ◽  
Daniel Sidi ◽  
...  
Keyword(s):  
Inner Ear ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Facial Dysmorphism ◽  
Cardiac Defect ◽  
Postnatal Growth Retardation ◽  
Inner Ear Malformation

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.

scholarly journals Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1461
Author(s):  
Yerai Vado ◽  
Arrate Pereda ◽  
Isabel Llano-Rivas ◽  
Nerea Gorria-Redondo ◽  
Ignacio Díez ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Genetic Disorder ◽  
Panel Study ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Triangular Face ◽  
Chromosome 11P15 ◽  
Postnatal Growth Retardation ◽  
Feeding Difficulties ◽  
Silver Russell Syndrome

Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%). However, pathogenic variants in genes such as CDKN1C, HMGA2, IGF2, or PLAG1 have also been described. Previously, two families and one sporadic case have been reported with PLAG1 alterations. Here, we present a case of a female with clinical suspicion of SRS (i.e., intrauterine and postnatal growth retardation, triangular face, psychomotor delay, speech delay, feeding difficulties). No alterations in methylation or copy number were detected at chromosomes 11p15 and 7 using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The custom panel study by next-generation sequencing (NGS) revealed a frameshift variant in the PLAG1 gene (NM_002655.3:c.551delA; p.(Lys184Serfs *45)). Familial studies confirmed that the variant was inherited from the mother and it was also present in other family members. New evidence of pathogenic alterations in the HMGA2-PLAG1-IGF2 pathway suggest the importance of studying and taking into account these genes as alternative molecular causes of Silver–Russell syndrome.

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