Presentation
Schneckenbecken dysplasia should be considered when the phenotype of dwarfism and snail feature of iliac bone associated with histological finding are presented. Frozen fetal samples should be taken in order to look for candidate genes. [ncbi.nlm.nih.gov]
Dolichocephaly Hypoplastic toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and symptoms may be present: Anterior rib cupping Advanced ossification of carpal bones Brachydactyly Flat acetabular [dovemed.com]
[…] pages { 575-7 } } Jastin Varkey, Robert Kenneth Jones Published in Ultrasound in obstetrics & gynecology : the… 2004 DOI: 10.1002/uog.1115 The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting [semanticscholar.org]
Entire Body System
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Collapse
[…] calvicles Hypoplastic scapulae Snail-like ilia Flat acetabular roofs Sacral stenosis Precociously ossified ischium Precociously ossified tarsus Vertebra Chest Pelvis Other -c - 1 case Precociously ossified carpal bone - Brachydactyly present; - absent. collapsed [documents.tips]
OI type II, known as the perinatal lethal type, is the manifestation of a new mutation in most cases and is characterized by severe osteopenia, blue sclera, short and bowed or angulated extremities, a diminutive thorax, and crumpled or collapsed long [basicmedicalkey.com]
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Turkish
Table 1 Characteristics of the Schneckenbecken dysplasia patients Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Clinical information Ethnic origin Caucasian Turkish Turkish Turkish Brazilian Consanguinity ( ) ( ) Gestational age (weeks) 18 22 20 20 [ncbi.nlm.nih.gov]
Gastrointestinal
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Gagging
[…] context of our study because of its clinical and radiographic phenotypic similarities to SBD and its pathogenesis related to impairment of a membrane sulfate transporter termed DTDST (diastrophic dysplasia sulfate transporter) affecting sulfation of GAG [ncbi.nlm.nih.gov]
Musculoskeletal
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Small Hand
It is generally non-lethal, and is characterized by severe delay in skeletal ossification, short limbs, small hands and feet, severe platyspondyly with hypoplastic vertebral bodies, metaphyseal cupping, squared iliac bones, horizontal acetabular roofs [ctgt.net]
Opsismodysplasia is generally non-lethal and is characterized by dysmorphic craniofacial features, a large anterior fontanelle, short stature and small hands and feet. [ncbi.nlm.nih.gov]
Face, Head & Neck
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Short Neck
The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities. The condition generally leads to stillbirth or death of the newborn soon after birth. [xpertdox.com]
Overview A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. [checkorphan.org]
neck Short, splayed ribs Snail-shaped ilia [datagenno.com]
Clinical findings include relative macrocephaly, a very flat midface, cleft palate, a short neck, a narrow thorax, brachydactyly, and a high incidence of polyhydramnios. [ncbi.nlm.nih.gov]
neck Short ribs Frequently present symptoms in 30-79% of the cases: Abnormality of the fingernails Cryptorchidism Dolichocephaly Hypoplastic toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and [dovemed.com]
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Thick Lips
A severely hydropic fetus with a swollen face with a bipartite nose, thick lips, narrow thorax and micromelic limbs were noted at postmortem examination. The autopsy revealed placental hydropic changes, pulmonary hypoplasia and accessory spleen. [ncbi.nlm.nih.gov]
Workup
X-Ray
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Delayed Bone Age
Spinocerebellar ataxia 5 Floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. [amp.pharm.mssm.edu]
Treatment
Other treatment for this disorder is symptomatic and supportive. [xpertdox.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]
[…] or Connect with Facebook Connect with Google Connect with LinkedIn Sign up Sign up SCHNECKENBECKEN DYSPLASIA Print Join Community Molecular Information SCHNECKENBECKEN DYSPLASIA, Datagenno Interactive Research Overview Therapies & Treatments Scientific [datagenno.com]
Prognosis
Prognosis - Schneckenbecken dysplasia Prognosis of Schneckenbecken dysplasia: lethal Treatment - Schneckenbecken dysplasia Not supplied. Resources - Schneckenbecken dysplasia Not supplied. [checkorphan.org]
(Outcomes/Resolutions) The prognosis of Schneckenbecken Dysplasia is poor, since the condition leads to fetal demise in majority of cases Additional and Relevant Useful Information for Schneckenbecken Dysplasia: The following DoveMed website link is a [dovemed.com]
They may assist physicians to define proper etiological diagnosis and clinical prognosis, as well as genetic counselling, once few of these genetic disorders may present with considerable recurrence risks. [scielo.br]
A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. [journals.lww.com]
Because of this frequency and the diversity of these conditions, it is essential that the practitioner be able to recognize a fetus, newborn, or child with a skeletal dysplasia so that the diagnosis can be established, the prognosis determined, and a [musculoskeletalkey.com]
Etiology
(Etiology) Schneckenbecken Dysplasia is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31) Schneckenbecken Dysplasia is inherited in an autosomal recessive manner (Source: Schneckenbecken Dysplasia ; Orphanet, National Institute of Health [dovemed.com]
Etiology This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31) Genetic counseling Schneckenbecken dysplasia is transmitted in an autosomal recessive manner. [rarediseases.info.nih.gov]
Epidemiology
Epidemiology Less than 20 cases have been reported in the literature so far. Clinical description The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. [rarediseases.info.nih.gov]
Pathophysiology
Pathophysiology Generation of interstitial fluid is regulated by the Starling equation of tissue fluid which states that it depends on the balance of osmotic pressure and of hydrostatic pressure which act in opposite directions across the semipermeable [wikidoc.org]
Based on data obtained in a conven- tional CT, the company’s software, using flow mechanics, can recon- struct heart, aorta and coronary ves- sels in terms of geometrics as well as pathophysiology and function in 3-D. [european-hospital.com]
Prevention
Prevention - Schneckenbecken dysplasia Not supplied. Diagnosis - Schneckenbecken dysplasia The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Schneckenbecken dysplasia. [checkorphan.org]
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]
Other risk factors such as age, hyperten- sion, smoking and diabetes are high- ly related to cardiovascular diseases.’ screening seriously as a key measure- ment for stroke prevention.’ [european-hospital.com]