Kosenow Syndrome (Scapuloiliac Dysplasia): Initially described in two unrelated girls presenting with marked hypoplasia of the scapulae, clavicles, and pelvis. [accessanesthesiology.mhmedical.com]

New findings are incorporated into all chapters, important advances in treatment are presented and the latest concepts in tumor diagnosis and neuro-orthopedics are discussed. [books.google.com]

Fibrous dysplasia is found predominantly in children and young adults, with ~75% of patients presenting before the age of 30 years (highest incidence between 3 and 15 years). In polyostotic form, patients usually present by 10 years old. [radiopaedia.org]

Acronym COUSS Synonyms Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Turkish

  Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported. [orpha.net]

  She had been born after an uneventful pregnancy asthe third child of first cousin-related parents of Turkish descent,having two healthy sibs. Her mother died at the age of 52 due toosteosarcoma. [docslide.com.br]

• Disproportionate Short Stature

  Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... [kegg.jp]

• Intestinal Atresia

  […] epithelial dysplasia Intestinal hypomagnesemia with secondary hypocalcemia Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intrahepatic cholestasis of pregnancy Intrauterine growth retardation - metaphyseal dysplasia - adrenal [csbg.cnb.csic.es]

• Heart Murmur

  murmur, Ventricular septal defect, Attention deficit hyperactivity disorder, Asthma, ...see more Uncertain significance (Aug 20, 2016) criteria provided, single submitterEpiblepharon of lower lid, Global developmental delay, Visual impairment, Feeding [ncbi.nlm.nih.gov]

• Winged Scapula

  […] helix deficiency Winged scapula Wiskott-Aldrich syndrome Witkop syndrome Witschel dystrophy WL syndrome WNT4 deficiency Wolcott-Rallison syndrome Wolf-Hirschhorn syndrome Wolfram syndrome Wolman disease Woodhouse-Sakati syndrome Woolly hair Woolly hair-palmoplantar [csbg.cnb.csic.es]

• Short Neck

  Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities [malacards.org]

  neck with redundant skin folds, low hairline, and mild psychomotor retardation. [newmedicalterms.com]

  Congenital dwarfism (rhizomelic micromelia), facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck, agenesis of the scapular wings, and hypoplasia of the iliac and acetabular wings occurred in both patients. [accessanesthesiology.mhmedical.com]

• Frontal Bossing

  Skip to content Cousin syndrome Joe Segen 2016-11-25T12:43:55+00:00 GENETICS A probably autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism [newmedicalterms.com]

  Cousin syndrome A condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures, [medical-dictionary.thefreedictionary.com]

  bossing Low posterior hairline ... ... [familydiagnosis.com]

  Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed [uniprot.org]

Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied. [checkorphan.org]

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]

New findings are incorporated into all chapters, important advances in treatment are presented and the latest concepts in tumor diagnosis and neuro-orthopedics are discussed. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Pelviscapular dysplasia Not supplied. Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied. [checkorphan.org]

Treatment and prognosis Usually, no treatment is required as the bone lesions usually do not progress beyond puberty. If a mass effect is severe, then surgical decompression may be considered. [radiopaedia.org]

[…] premature ovarian failure早発閉経（早発卵巣機能不全） premature rupture of themembranes前期破水 premature separation ofnormally implanted placenta常位胎盤早期剥離 premenstrual syndrome月経前症候群（月経前緊張症） presentation胎位 preterm早期 primordial follicle原始卵胞 primordial germ cell原始生殖細胞 prognosis [tokyo-med.ac.jp]

Etiology Mutations in the TBX15 gene have been identified as potentially causative. [orpha.net]

Azami Ahad A Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, - - 2014 Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. [biomedsearch.com]

Summary Epidemiology Pelviscapular dysplasia was initially described in a North African brother and sister. Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported. [orpha.net]

Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far. Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period. [rarediseases.info.nih.gov]

Relevant External Links for TBX15 Genetic Association Database (GAD) TBX15 Human Genome Epidemiology (HuGE) Navigator TBX15 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TBX15 No data available for Genatlas for TBX15 Gene Personalized [genecards.org]

Prior to closure, it is ... 84 Epidemiology of Orofacial Clefts in the East of Ireland in the 25-Year ... McDonnell Robert - - 2013 Objective: To describe the epidemiology of orofacial clefts in the east of Ireland. [biomedsearch.com]

[…] vertebral column and head by controling the number of mesenchymal precursor cells and chondrocytes required for the condensation of mesenchymal precursor cells in early development of the skeleton mainly acting as a gene repressor might be involved in the pathophysiology [genatlas.medecine.univ-paris5.fr]

Prevention - Pelviscapular dysplasia Not supplied. Diagnosis - Pelviscapular dysplasia Not supplied. Prognosis - Pelviscapular dysplasia Not supplied. Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied. [checkorphan.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia [uniklinik-freiburg.de]