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2,368 Possible Causes for Open Metopic Suture, Overfolded Superior Helix, Skeletal Dysplasia

  • FGFR2-Related Bent Bone Dysplasia

    European skeletal dysplasia network (ESDN). 2003-2010. (accessed April 16, 2015). International skeletal dysplasia society (ISDS). 2004-2015.[] While fetal skeletal dysplasiasare generally recognized on prenatal sonography, anaccurate diagnosis of a specific skeletal dysplasia canbe challenging due to its rarity,[] NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped[]

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle.[] (c) Lateral skull radiograph showing hypoplasia of mid-facial bones, open sutures, wormian bones and metopic sutures.[]

    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[] Skeletal dysplasias. In: McAteer M, editor. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5 th ed.[] dysplasias 653 463 Dysostoses localized hereditary skeletal deformities 686 464 Chromosomal abnormalities 688 465 Syndromes with neuromuscular abnormalities 691 466 Various[]

  • Thanatophoric Dysplasia

    Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia[] The frontal bone is very thin and bulges upward and forward, the large anterior fontanel extends forward and bilaterally into widely open metopic and coronal sutures, the[] […] lethal skeletal dysplasias.[]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] dysplasia, Ehlers Danlos syndrome, hyperextensible joints, Beals syndrome, congenital contractural arachnodactyly, other) Cooley anemia (thalassemia major, beta-thalassemia[] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[]

  • Malnutrition

    T2-weighted MR (magnetic resonance) images of a 19-year-old woman undergoing concurrent chemoradiotherapy for a nasopharyngeal carcinoma revealed a lesion marked by focal hyper signal intensity in the splenium of the corpus callosum. The lesion was not visible two weeks later. She suffered from malnutrition[…][]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Pyknodysostosis

    Abstract: Patients with pycnodysostosis, a rare skeletal dysplasia, present with bone abnormalities such as short stature, acroosteolysis of distal phalanges, and skull deformities[] The cranial sutures, which should be nearly completely fused at this age remain widely open.[] Patients with pycnodysostosis, a rare skeletal dysplasia, present with bone abnormalities such as short stature, acroosteolysis of distal phalanges, and skull deformities.[]

    Missing: Overfolded Superior Helix
  • Cloverleaf Skull

    skeletal dysplasia from others due to overlapping appearance of features with other dysplasia.[] Cranio-facial CT scan with three-dimensional reconstruction: wide open metopic suture with absence of coronal sutures (a, b).[] Physical examination showed a closed sagittal suture, a laterally fused coronal suture, and open temporal, metopic, and lambdoid sutures ( Figures 1-3 ).[]

    Missing: Overfolded Superior Helix
  • Camptodactyly Syndrome Guadalajara Type 1

    dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly[] Camptodactyly joint contractures and facial skeletal dysplasia 0 *Clubfoot *Contracture *Dysostoses *Hand Deformities, Congenital Face/abnormalities.[] Learn more Other less relevant matches: Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 Robinow syndrome is a skeletal dysplasia characterized by distinctive facial[]

    Missing: Open Metopic Suture
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] […] dystrophy, cerebellar ataxia, and skeletal dysplasia;conorenal syndrome; renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome Related[] […] oculo-oto-facial dysplasia , see Burn-McKeown syndrome oculo-skeletal-abdominal syndrome , see 3MC syndrome oculoauriculovertebral spectrum , see Craniofacial microsomia[]

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