The patient presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age. [cags.org.ae]

Abstract : We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. [hal.archives-ouvertes.fr]

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. [accesspediatrics.mhmedical.com]

If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. [dovemed.com]

• Disproportionate 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]

• Short Extremities

  Definition A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. [uniprot.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.[3618]Two forms have been distinguished [rarediseases.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]

  It is part of a group of disease involved with multiple dislocations and characterized by severe prenatal and postnatal growth retardation (dwarfism < 5 SD), joint laxity, very short extremities, and progressive scoliosis. [accessanesthesiology.mhmedical.com]

• Osteopenia

  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]

  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.[1]Two forms have been distinguished [rarediseases.info.nih.gov]

  Radiographic examinations showed a generalized osteopenia with narrowing of the joint spaces and intervertebral discs. They also had prominent posterior cranial fossa and narrow cranial sutures. [cags.org.ae]

• Coxa Vara

  Other complications included, scoliosis, marked lordosis, coxa vara or valga and walking difficulties. [link.springer.com]

• Round Face

  Definition A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. [uniprot.org]

  face with midface hypoplasia. [docksci.com]

  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]

  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]

• Short Neck

  At the age of 8 years she had a normal face, a very short neck, and narrow thorax. The second case was the brother of patient 1. [cags.org.ae]

  neck; Intellectual disability of various degrees; Obesity in adults. [rarediseases.info.nih.gov]

  neck Intellectual disability of various degrees Obesity in adults Signs and symptoms specific to Desbuquois Syndrome Type 1: Accessory ossification center situated away (distal) from the second bone of the hand (metacarpal) Bifid distal phalanx (the [dovemed.com]

Complications may occur with or without treatment, and in some cases, due to treatment also. How is Desbuquois Syndrome Treated? Only symptomatic treatment is currently available for individuals with Desbuquois Syndrome. [dovemed.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Treatment for the condition is geared towards the signs and symptoms present in each individual.[3618] For more information, visit GARD. [rarediseases.org]

PMID: 31950479 Prognosis Takata Y, Lenke LG, Kelly MP Spine Deform 2020 Feb;8(1):135-138. Epub 2020 Jan 16 doi: 10.1007/s43390-020-00030-7. [ncbi.nlm.nih.gov]

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]

Etiology Am J Med Genet A 2019 Dec;179(12):2490-2493. Epub 2019 Oct 6 doi: 10.1002/ajmg.a.61372. [ncbi.nlm.nih.gov]

(Etiology) Desbuquois Syndrome type 1 and Kim variant are caused by mutations in the CANT1 gene (located on chromosome 17q25.3) In some cases of Desbuquois Syndrome type 2 there are mutations in the XYLT1 gene (located on chromosome16p12), but in other [dovemed.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. [accesspediatrics.mhmedical.com]

Currently, Desbuquois Syndrome may not be preventable, since it is a genetic disorder. [dovemed.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]