Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency

Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status w...

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Main Authors: Miyoshi, Yoko, Miki, Kazunori, Etani, Yuri, Mushiake, Sotaro, Shimizu, Nobuyuki, Ozono, Keiichi
Format: Online
Language:English
Published: The Japanese Society for Pediatric Endocrinology 2005
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004926/
id pubmed-4004926
recordtype oai_dc
spelling pubmed-40049262014-04-30 Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency Miyoshi, Yoko Miki, Kazunori Etani, Yuri Mushiake, Sotaro Shimizu, Nobuyuki Ozono, Keiichi Original Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status were recorded longitudinally. She exhibited a constant growth rate (average + 6.2 cm/yr) from 6 to 9 yr old, followed by a downward shift at 10 yr old. Her final height was 135 cm (–4.4 SD for an adult female) and weight was 50.5 kg (–0.3 SD) at 12 yr and 10 mo old. Mesomelia and cubitus valgus were noticed from 2 yr old, and metaphyseal lucency and epiphyseal hypoplasia of the medial side of the distal radius were detected at 6 yr old. Madelung deformity was obvious at 10 yr old, when menarche occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated a single copy of the SHOX gene. The short stature of the patient was thought to be exaggerated by the combination of SHOX haploinsufficiency and relatively early puberty. The Japanese Society for Pediatric Endocrinology 2005-02-14 2005 /pmc/articles/PMC4004926/ /pubmed/24790304 http://dx.doi.org/10.1297/cpe.14.11 Text en 2005©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Miyoshi, Yoko
Miki, Kazunori
Etani, Yuri
Mushiake, Sotaro
Shimizu, Nobuyuki
Ozono, Keiichi
spellingShingle Miyoshi, Yoko
Miki, Kazunori
Etani, Yuri
Mushiake, Sotaro
Shimizu, Nobuyuki
Ozono, Keiichi
Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
author_facet Miyoshi, Yoko
Miki, Kazunori
Etani, Yuri
Mushiake, Sotaro
Shimizu, Nobuyuki
Ozono, Keiichi
author_sort Miyoshi, Yoko
title Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
title_short Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
title_full Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
title_fullStr Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
title_full_unstemmed Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
title_sort longitudinal observation of a patient with leri-weill dyschondrosteosis and shox haploinsufficiency
description Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status were recorded longitudinally. She exhibited a constant growth rate (average + 6.2 cm/yr) from 6 to 9 yr old, followed by a downward shift at 10 yr old. Her final height was 135 cm (–4.4 SD for an adult female) and weight was 50.5 kg (–0.3 SD) at 12 yr and 10 mo old. Mesomelia and cubitus valgus were noticed from 2 yr old, and metaphyseal lucency and epiphyseal hypoplasia of the medial side of the distal radius were detected at 6 yr old. Madelung deformity was obvious at 10 yr old, when menarche occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated a single copy of the SHOX gene. The short stature of the patient was thought to be exaggerated by the combination of SHOX haploinsufficiency and relatively early puberty.
publisher The Japanese Society for Pediatric Endocrinology
publishDate 2005
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004926/
_version_ 1612083742807949312

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