Juvenile hypophosphatasia presenting with short stature: a case report

2017 ◽  
Author(s):  
Betul Ersoy ◽  
Ozen Atik
Keyword(s):  
Case Report ◽  
Short Stature

scholarly journals A Challenging Case of a Physeal Bar Endoscopic-Assisted Resection in a Short Stature Child: Case Report and Literature Review

2021 ◽  
pp. 115-120
Author(s):  
Melanie Ribau ◽  
Mário Baptista ◽  
Nuno Oliveira ◽  
Bruno Direito Santos ◽  
Pedro Varanda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Short Stature ◽  
Clinical Presentation ◽  
Normal Growth ◽  
Limb Length Discrepancy ◽  
Complete Excision ◽  
Physeal Bar ◽  
Surgical Options ◽  
The Ideal

Partial physeal bars may develop after injury to the growth plate in children, eventually leading to disturbance of normal growth. Clinical presentation, age of the patient, and the anticipated growth will dictate the best treatment strategy. The ideal treatment for a partial physeal bar is complete excision to allow growth resumption by the remaining healthy physis. There are countless surgical options, some technically challenging, that must be weighted according to each case’s particularities. We reviewed the current literature on physeal bars while reporting the challenging case of a short stature child submitted to a femoral physeal bar endoscopic-assisted resection with successful growth resumption. This case dares surgeons to consider all options when treating limb length discrepancy, such as the endoscopic-assisted resection which might offer successful results.

The Weismann-Netter Syndrome: A Cause of Bowed Legs in Childhood

PEDIATRICS ◽  
1991 ◽  
Vol 88 (2) ◽  
pp. 334-337
Author(s):  
GARY L. FRANCIS ◽  
JAMES J. JELINEK ◽  
KATHLEEN MCHALE ◽  
MEGAN ADAMSON ◽  
SONDRA W. LEVIN
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Skeletal Dysplasia ◽  
Full Term ◽  
Pediatric Age ◽  
Uncomplicated Pregnancy ◽  
Age Range

The Weismann-Netter syndrome is a rare, heritable skeletal dysplasia which often presents as asymptomatic bowing of the lower legs or short stature.1 Although more than 40 cases have been described, there is mention of only 8 cases in patients who were younger than 16 years of age.1-9 In retrospect, most of the affected adults reported symptoms during childhood. We recently had the opportunity to evaluate a 4-year-old boy, whom we believe to have the Weismann-Netter syndrome. This case served to heighten our awareness of this condition, which should be recognizable in the pediatric age range. CASE REPORT The proband (Fig 1), a four-year-old Arabic boy, was the product of a full-term, uncomplicated pregnancy.

scholarly journals A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Liying Sun ◽  
Qianwen Zhang ◽  
Qun Li ◽  
Yijun Tang ◽  
Yirou Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Thyroid Disease ◽  
Nonsense Mutation ◽  
Intrauterine Growth Restriction ◽  
De Novo ◽  
Protein Translation ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Short Syndrome

Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. Case presentation The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). Conclusions This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome.

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.

scholarly journals Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

2013 ◽  
Vol 2013 (1) ◽  
Author(s):  
Marisa Censani ◽  
Kwame Anyane-Yeboa ◽  
Ronald Wapner ◽  
Erica Spiegel ◽  
Edwin Guzman ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Homeobox Gene ◽  
Y Chromosomes

Familial Osteodysplasia Associated with Trigeminal Neuralgia: Case Report

Neurosurgery ◽  
1984 ◽  
Vol 15 (4) ◽  
pp. 562-565 ◽  
Author(s):  
Kyo Huang Niijima ◽  
Akinori Kondo ◽  
Jun-ichiro Ishikawa ◽  
Choigon Kim ◽  
Hiraji Itoh
Keyword(s):  
Case Report ◽  
Trigeminal Neuralgia ◽  
Short Stature ◽  
Trigeminal Nerve ◽  
Basilar Artery ◽  
Cerebellopontine Angle ◽  
Basilar Impression ◽  
Vertebral Angiography ◽  
Facial Spasm ◽  
Possible Cause

Abstract A 24-year-old woman suffering from left trigeminal neuralgia presented with the familial occurrence of skeletal anomalies simulating Hajdu-Cheney syndrome. She was of a short stature and had low-set ears, protrusion of the bilateral temporal and occipital bones, platybasia, basilar impression, and dental anomaly. Vertebral angiography disclosed marked displacement to the left and dorsally of the basilar artery, which was confirmed during the operation to have compressed the left trigeminal nerve in the cerebellopontine angle narrowed by the unusually protruded bony structure. Cases of Hajdu-Cheney syndrome have occasionally been reported, a few combined with facial spasm, but Hajdu-Cheney syndrome with trigeminal neuralgia is very rate. The patient's family members were surveyed. The possible cause of the neuralgia with its relation to the osteodysplasia is briefly discussed.

scholarly journals Glycogen Storage Disease IXa in a 9-year-old Filipino Boy with Short Stature: A Case Report

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Sylvia C. Estrada
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Glycogen Storage Disease ◽  
Growth Retardation ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Liver Enlargement

Glycogen storage disease (GSD) type IXa, due to a deficiency of hepatic phosphorylase b kinase, results in liver enlargement, growth retardation and fasting ketosis. Many are asymptomatic and do not require treatment. This is the first documented GSD IXa in a Filipino boy evaluated for short stature.

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