scholarly journals Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin

2017 ◽  
Vol 8 (1) ◽  
pp. 121-122 ◽  
Author(s):  
Haruka Sasaki ◽  
Kumiko Ohkubo ◽  
Kunihisa Kobayashi ◽  
Yuji Tajiri ◽  
Satoshi Ugi ◽  
...  
Keyword(s):  
Short Stature ◽  
Sensorineural Deafness ◽  
Genetic Origin ◽  
Partial Lipodystrophy ◽  
Mandibular Hypoplasia

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness

2017 ◽  
Vol 153 (2) ◽  
pp. 66-72
Author(s):  
Saadia Amasdl ◽  
Wiam Smaili ◽  
Abdelhafid Natiq ◽  
Amale Hassani ◽  
Aziza Sbiti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Short Stature ◽  
X Chromosome ◽  
Chromosome Region ◽  
Sensorineural Deafness ◽  
Bone Age ◽  
Chondrodysplasia Punctata ◽  
Y Chromosomes ◽  
Contiguous Gene ◽  
Potential Evaluation

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.

scholarly journals Orthopaedic Aspects of SAMS Syndrome

2020 ◽  
Author(s):  
Dirk E. Schrander ◽  
Heleen M. Staal ◽  
Colin A. Johnson ◽  
Alistair Calder ◽  
Neeti Ghali ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Developmental Disorder ◽  
Primary Diagnosis ◽  
Skeletal Anomalies ◽  
Skeletal Abnormalities ◽  
Mandibular Hypoplasia ◽  
Canal Atresia

AbstractThe combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise.

scholarly journals Albright hereditary osteodystrophy: dental management case report

2018 ◽  
Vol 66 (1) ◽  
pp. 106-110
Author(s):  
Stephanie Anagnostopoulos FRIEDRICH ◽  
Jonas RODRIGUES ◽  
Berenice Barbachan e SILVA
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Enamel Hypoplasia ◽  
Phenotypic Characteristics ◽  
Genetic Origin ◽  
Albright Hereditary Osteodystrophy ◽  
Presenting Symptoms ◽  
Behavioural Difficulties ◽  
Dental Management ◽  
Dental Appointments

ABSTRACT Albright hereditary osteodystrophy is a disorder comprising phenotypic characteristics of genetic origin, such as short stature, obesity, and brachydactyly. It is a rare disorder and is related to pseudohypoparathyroidism. Within dentistry, it may be associated with enamel hypoplasia and late eruption. Furthermore, due to neurological problems, these patients may impose behavioural difficulties during dental appointments. The present study aims to describe the case of a patient with a possible diagnosis of Albright hereditary osteodystrophy, presenting symptoms and limitations to dental management.

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

1983 ◽  
Vol 15 (1) ◽  
pp. 29-38 ◽  
Author(s):  
Dagfinn Aarskog ◽  
Leiv Ose ◽  
Helene Pande ◽  
Nils Eide ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Partial Lipodystrophy

scholarly journals A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

2019 ◽  
Vol 181 (5) ◽  
pp. K43-K53 ◽  
Author(s):  
Ana Claudia Keselman ◽  
Ayelen Martin ◽  
Paula Alejandra Scaglia ◽  
Nora María Sanguineti ◽  
Romina Armando ◽  
...  
Keyword(s):  
Short Stature ◽  
Gestational Age ◽  
Present Report ◽  
Snp Array ◽  
Sensorineural Deafness ◽  
Postnatal Growth ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Homozygous Mutation

Background IGF1 is a key factor in fetal and postnatal growth. To date, only three homozygous IGF1 gene defects leading to complete or partial loss of IGF1 activity have been reported in three short patients born small for gestational age. We describe the fourth patient with severe short stature presenting a novel homozygous IGF1 gene mutation. Results We report a boy born from consanguineous parents at 40 weeks of gestational age with intrauterine growth restriction and severe postnatal growth failure. Physical examination revealed proportionate short stature, microcephaly, facial dysmorphism, bilateral sensorineural deafness and mild global developmental delay. Basal growth hormone (GH) fluctuated from 0.2 to 29 ng/mL, while IGF1 levels ranged from −1.15 to 2.95 SDS. IGFBP3 was normal-high. SNP array delimited chromosomal regions of homozygosity, including 12q23.2 where IGF1 is located. IGF1 screening by HRM revealed a homozygous missense variant NM_000618.4(IGF1):c.322T>C, p.(Tyr108His). The change of the highly conserved Tyr60 in the mature IGF1 peptide was consistently predicted as pathogenic by multiple bioinformatic tools. Tyr60 has been described to be critical for IGF1 interaction with type 1 IGF receptor (IGF1R). In vitro, HEK293T cells showed a marked reduction of IGF1R phosphorylation after stimulation with serum from the patient as compared to sera from age-matched controls. Mutant IGF1 was also less efficient in inducing cell growth. Conclusion The present report broadens the spectrum of clinical and biochemical presentation of homozygous IGF1 defects and underscores the variability these patients may present depending on the IGF/IGF1R pathway activity.

scholarly journals A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant

2020 ◽  
Vol 4 (8) ◽  
Author(s):  
Abhimanyu Garg ◽  
Hatem El-Shanti ◽  
Chao Xing ◽  
Zhengyang Zhou ◽  
Mousa Abujbara ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Autosomal Recessive ◽  
Transmembrane Protein ◽  
Hormone Deficiency ◽  
Messenger Ribonucleic Acid ◽  
Progeroid Syndrome ◽  
Mandibular Hypoplasia ◽  
Progeroid Syndromes ◽  
Vesicle Exocytosis

Abstract Context Despite considerable progress in elucidating the molecular basis of various progeroid syndromes, some rare patients remain unexplained. Objective To elucidate molecular genetic basis of a novel autosomal recessive progeroid syndrome. Participants A 24-year-old male and his 18-year-old sister with short stature, mandibular hypoplasia, pointed nose, shrill voice, severe osteoporosis, and short eyebrows and their unaffected siblings and parents belonging to a consanguineous Arab family. Results Using exome and Sanger sequencing, we report a novel homozygous p.Glu394Lys disease-causing variant in proline-rich transmembrane protein 3 (PRRT3). PRRT3 belongs to the family of proline-rich proteins containing several repeats of a short proline-rich sequence, but its function remains to be determined. Preliminary observations showing colocalization of Prrt3 and synaptophysin support its role in vesicle exocytosis. Consistent with the highest messenger ribonucleic acid expression of PRRT3 in the pituitary, both the patients had mild growth hormone deficiency but had near normal reproductive development. Conclusions We conclude that the homozygous p.Glu394Lys variant in PRRT3 may be associated with a novel autosomal recessive, progeroid syndrome with short stature, mandibular hypoplasia, osteoporosis, short eyebrows, and mild growth hormone (GH) deficiency. Our findings extend the spectrum of progeroid syndromes and elucidate important functions of PRRT3 in human biology, including secretion of GH from the pituitary.

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