Faisalabad histiocytosis mimics Rosai-Dorfman disease: Brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness

2006 ◽  
Vol 47 (5) ◽  
pp. 629-632 ◽  
Author(s):  
Hans-Christoph Rossbach ◽  
Carlos Dalence ◽  
Tung Wynn ◽  
Cameron Tebbi
Keyword(s):  
Short Stature ◽  
Sensorineural Deafness ◽  
Rosai Dorfman Disease

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 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

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.

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