Bloom Syndrome
These patients often have prenatal or postnatal growth retardation, short stature, malar hypoplasia, telangiectatic erythema of the face and other regions, hypo- and hyperpigmentation[mayomedicallaboratories.com]
CHST3 -Related Skeletal Dysplasia Andrea Superti-Furga and Sheila Unger. Initial Posting: September 1, 2011; Last Update: January 31, 2019.[ncbi.nlm.nih.gov]
Turner Syndrome
[…] counseling and management after the diagnosis was made either prenatally or postnatally.[pediatrics.aappublications.org]
dysplasia.[magicfoundation.org]
Patients have been referred primarily for diagnostic evaluation (because of congenital lymphedema, dysmorphic features, short stature, or primary amenorrhea) and for genetic[pediatrics.aappublications.org]
Skeletal Dysplasia
When presented with a patient that may have a skeletal dysplasia, the following must be performed: (a) Clinical evaluation: assessment of disproportionate short stature (prenatal[analesdepediatria.org]
Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[ncbi.nlm.nih.gov]
DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[doi.org]
Familial Short Stature
short stature.[ncbi.nlm.nih.gov]
Thanatophoric dysplasia It is the most common lethal skeletal dysplasia in the neo‐natal period.[intechopen.com]
Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism.[ncbi.nlm.nih.gov]
Russell-Silver Syndrome
Systematic testing of cases suspected prenatally or postnatally would be informative regarding the individual contribution of each factor.[ncbi.nlm.nih.gov]
A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations. Clin Genet. 1986 Jan; 29 (1):83–87. [ PubMed ] [ Google Scholar ] Adeyokunnu AA.[ncbi.nlm.nih.gov]
This is unlike the pattern in other growth disorders such as Turner syndrome and skeletal dysplasia where parental height has an influence on final height outcome.[jmg.bmj.com]
3M Syndrome Type 1
In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism[scienceopen.com]
Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features.[ncbi.nlm.nih.gov]
, Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia, constitutional disorders of bone, nosology, classification, nomenclature In: Osteologický[cps.lf1.cuni.cz]
Coxa Valga
[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[ncbi.nlm.nih.gov]
The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis[en.wikipedia.org]
dysplasias, and juvenile idiopathic arthritis.[medbox.iiab.me]
Spondylometaphyseal Dysplasia
DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones.[musculoskeletalkey.com]
Spondylometaphyseal dysplasia corner fracture type (Sutcliffe) is an uncommon form of skeletal dysplasia which has some unique imaging features.[ncbi.nlm.nih.gov]
We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal[ncbi.nlm.nih.gov]
Diastrophic Dysplasia
There may be additional disorders that are characterized by growth delays before and after birth (prenatal and postnatal growth retardation); abnormally short arms and legs[peachynay.tripod.com]
Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques.[ncbi.nlm.nih.gov]
Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia.[ncbi.nlm.nih.gov]
Platyspondyly
[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[ncbi.nlm.nih.gov]
TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[unboundmedicine.com]
We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.[read.qxmd.com]