Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. [karger.com]

Desbuquois Dysplasia Type II: Presents all clinical features except the hand anomalies described for Type I. Kim Variant of Desbuquois Dysplasia DBQD: Described in seven patients originating from Korea and Japan. [accessanesthesiology.mhmedical.com]

Many people with the condition may present with respiratory problems at birth or during infancy and need urgent attention. [rareguru.com]

[…] dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal… Background Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal… We present [semanticscholar.org]

Treatment for the condition is geared towards the signs and symptoms present in each individual.[3618] Synonyms DBQD Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois dysplasia [rarediseases.org]

• Short Stature

  Medical Term Other Names Description Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature [rarediseases.oscar.ncsu.edu]

  […] recessively inherited condition characterised by short stature, generalised skeletal… We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD… Three patients with short stature, joint [semanticscholar.org]

  Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.Two forms have been distinguished on [rareguru.com]

  Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[3618]Two forms have been distinguished [rarediseases.org]

  stature syndrome) CDT1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC6 Meier-Gorlin syndrome (Ear-patella-short [genda.com.ar]

• Hip Dislocation

  Note the flat face, narrow thorax, short limbs (A) with hip dislocation, hyperlaxity of fingers (B), and deviation of toes (C). Figure 2 Radiological Features of Two DBQD Type 2 Subjects with XYLT1 Mutations (A) Subject 1 (family 1) at 8 months. [pubmed.ncbi.nlm.nih.gov]

• Skin Dysplasia

  PMID: 25486376 Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. Mizumoto S, Yamada S, Sugahara K. Mizumoto S, et al. [pubmed.ncbi.nlm.nih.gov]

  Mutations in biosynthetic enzymes for the protein linker region of chondroitin/dermatan/heparan sulfate cause skeletal and skin dysplasias. BioMed Research International; 2015. [bmcpediatr.biomedcentral.com]

• Round Face

  Facial dysmorphia included a rounded face, micrognathia, depressed nasal bridge, long philtrum and significant bluish corneal haziness in both eyes. An examination confirmed the presence of bilateral congenital glaucoma. [cags.org.ae]

  Patients are characterised (1) clinically by markedly short stature of prenatal onset, joint laxity, and specific facial dysmorphism including a round face, prominent, bulging eyes, and midface hypoplasia, and (2) radiologically by a “Swedish key” appearance [jmg.bmj.com]

  It is associated with characteristic dysmorphic features, including a flat round face, midface hypoplasia, short nose, microstomia, and microretrognathia, often resulting in a Pierre Robin anomaly. [nature.com]

  The clinical manifestations contain severe prenatal and postnatal growth retardation, frailty joint, round face, midface hypoplasia, prominent eyes, short extremities and progressive scoliosis [3]. [bmcpediatr.biomedcentral.com]

  All manifested pre and postnatal growth retardation, prominent eyes, depressed nasal bridge, anteverted nares, mid-face hypoplasia, and round face. One girl manifested large frontal hemangioma (b). [auctoresonline.org]

Treatment for the condition is geared towards the signs and symptoms present in each individual.[3618] Synonyms DBQD Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois dysplasia [rarediseases.org]

It is important to clarify whether it is a lethal or nonlethal disorder to plan the most effective delivery method and the best postnatal treatment [3]. [bmcmusculoskeletdisord.biomedcentral.com]

Prognosis is poor. Synonyms Dyssegmental Dwarfism Rolland-Desbuquois Type; Dyssegmental Dysplasia Rolland-Desbuquois Type; Anisospondylic Campto-Micro-Melic Dwarfism. Incidence Very rare, around 20 cases reported worldwide. [accesspediatrics.mhmedical.com]

Additional tests, such as MRI or amniotic chromosomal testing, were performed if required to determine fetal prognosis or to differentiate skeletal dysplasia from other diseases. [bmcmusculoskeletdisord.biomedcentral.com]

Type 2 can also be caused by mutations in CANT1, and so the presence or absence of hand anomalies cannot predict the molecular etiology of the disease [Furuichi et al., 2011]. [karger.com]

Pathophysiology Advance in molecular genetics has allowed to understand better the origin of this medical condition. However, the pathophysiology for this severe form of dwarfism and its musculoskeletal specificities remains unknown. [accessanesthesiology.mhmedical.com]

Pathophysiology Evidence for heparan sulphate perlecan gene 2 (HSPG2) mutations on chromosome 1p36.12, which encodes perlecan. Perlecan binds to basement membrane proteins such as collagen IV and laminin-1. [accesspediatrics.mhmedical.com]

Therefore, due to the variety and severity of complications, identifying and reporting related mutations and using them in prenatal diagnosis is a useful diagnostic tool in the prevention of this disease and benefits children and families affected by [bmcpediatr.biomedcentral.com]

In cases of OI, it can be difficult to prevent intrauterine fractures as they can be caused by fetal movement (Fig. 5). [bmcmusculoskeletdisord.biomedcentral.com]