Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

2021 ◽  
Vol 24 (5) ◽  
pp. 138-140
Author(s):  
Sara Dal Bo ◽  
Claudia Muratori ◽  
Chiara Nardini ◽  
Ilaria Donati ◽  
Anna Maria Magistà ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Uniparental Disomy ◽  
Final Diagnosis ◽  
Early Puberty ◽  
Maternal Uniparental Disomy ◽  
Feeding Difficulties ◽  
Intrauterine Growth ◽  
Imprinting Disorder ◽  
Development Delay ◽  
Temple Syndrome

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardation, hypotonia, difficult feeding, development delay and precocious puberty. The absence of congenital pathognomonic malformations and universally recognized screening methodologies make this pathology be underdiagnosed, so the analysis of 14q32 should be evaluated in all cases of intrauterine growth restriction, hypotonia and neonatal feeding difficulties. It should also be considered in cases of unexplained early puberty associated with poor stature growth. The paper presents the case of a girl with the final diagnosis of Temple syndrome, with an initial picture of intrauterine growth retardation, axial hypotonia and feeding difficulties. The initial diagnostic suspicion was a Silver-Russell syndrome.

scholarly journals Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 588
Author(s):  
Pierpaola Tannorella ◽  
Daniele Minervino ◽  
Sara Guzzetti ◽  
Alessandro Vimercati ◽  
Luciano Calzari ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Molecular Mechanisms ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Molecular Diagnostic ◽  
Growth Delay ◽  
Molecular Defect ◽  
Maternal Uniparental Disomy ◽  
Feeding Difficulties ◽  
Silver Russell Syndrome

Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine–Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5) (50%) and the maternal uniparental disomy of chromosome 7 (UPD(7)mat) (10%) are the most frequent causes. Thus far, about 40% of SRS remains undiagnosed, pointing to the need to define the rare mechanisms in such a consistent fraction of unsolved patients. Within a cohort of 176 SRS with an NH-CSS ≥ 3, a molecular diagnosis was disclosed in about 45%. Among the remaining patients, we identified in 3 probands (1.7%) with UPD(20)mat (Mulchandani–Bhoj–Conlin syndrome, OMIM #617352), a molecular mechanism deregulating the GNAS locus and described in 21 cases, characterized by severe feeding difficulties associated with failure to thrive, preterm birth, and intrauterine/postnatal growth retardation. Our patients share prominent forehead, feeding difficulties, postnatal growth delay, and advanced maternal age. Their clinical assessment and molecular diagnostic flowchart contribute to better define the characteristics of this rare imprinting disorder and to rank UPD(20)mat as the fourth most common pathogenic molecular defect causative of SRS.

scholarly journals Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation

1998 ◽  
Vol 43 (2) ◽  
pp. 138-142 ◽  
Author(s):  
O. Miyoshi ◽  
Satoshi Hayashi ◽  
Masahiro Fujimoto ◽  
Hiroaki Tomita ◽  
Masakazu Sohda ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy ◽  
Intrauterine Growth

scholarly journals Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity

2002 ◽  
Vol 22 (15) ◽  
pp. 5585-5592 ◽  
Author(s):  
Yang Soo Moon ◽  
Cynthia M. Smas ◽  
Kichoon Lee ◽  
Josep A. Villena ◽  
Kee-Hong Kim ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Growth Retardation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Tissue Mass ◽  
Imprinted Gene ◽  
Maternal Uniparental Disomy ◽  
Skeletal Malformation

ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

scholarly journals Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

2020 ◽  
Vol 57 (10) ◽  
pp. 683-691 ◽  
Author(s):  
Oluwakemi Lokulo-Sodipe ◽  
Lisa Ballard ◽  
Jenny Child ◽  
Hazel M Inskip ◽  
Christopher D Byrne ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Uniparental Disomy ◽  
Scoring Systems ◽  
Hormone Treatment ◽  
Diagnostic Features ◽  
Maternal Uniparental Disomy ◽  
Feeding Difficulties ◽  
Adult Growth ◽  
Silver Russell Syndrome

BackgroundSilver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%–10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype. Our aim was to describe the phenotypic characteristics of older patients with SRS.MethodsA retrospective cohort of 33 individuals with a confirmed molecular diagnosis of SRS aged 13 years or above were carefully phenotyped.ResultsThe median age of the cohort was 29.6 years; 60.6% had a height SD score (SDS) ≤−2 SDS despite 70% having received growth hormone treatment. Relative macrocephaly, feeding difficulties and a facial appearance typical of children with SRS were no longer discriminatory diagnostic features. In those aged ≥18 years, impaired glucose tolerance in 25%, hypertension in 33% and hypercholesterolaemia in 52% were noted. While 9/33 accessed special education support, university degrees were completed in 40.0% (>21 years). There was no significant correlation between quality of life and height SDS. 9/25 were parents and none of the 17 offsprings had SRS.ConclusionHistorical treatment regimens for SRS were not sufficient for normal adult growth and further research to optimise treatment is justified. Clinical childhood diagnostic scoring systems are not applicable to patients presenting in adulthood and SRS diagnosis requires molecular confirmation. Metabolic ill-health warrants further investigation but SRS is compatible with a normal quality of life including normal fertility in many cases.

scholarly journals Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

2017 ◽  
Vol 8 (3) ◽  
pp. 131-138 ◽  
Author(s):  
Veronica Bertini ◽  
Antonella Fogli ◽  
Rossella Bruno ◽  
Alessia Azzarà ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14
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