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481 Possible Causes for Round Face, Skeletal Dysplasia

  • Pseudopseudohypoparathyroidism

    Although synovial manifestations of other rare skeletal dysplasias have been reported, the association of synovial osteochondromatosis and PPH has not been described. 28,29[] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[] Dysplasias NGS panel.[]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[] NAGLU and CYP26B1 mutations were related to MPS IIIB and skeletal dysplasia, respectively.[]

  • Kniest Dysplasia

    The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[] Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).[] The combined use of 3D-CT with ultrasonography is a power tool for the prenatal diagnosis of congenital skeletal dysplasias.[]

  • Mucopolysaccharidosis 2

    Skeletal manifestations in adults with MPS IIB may be only small carpal bones or mild dysplasia of the pelvis and femoral heads with premature osteoarthritis.[] Of interest to the rheumatologist, skeletal and joint abnormalities are a prominent feature of many of the MPS disorders; patients often present with skeletal dysplasia, decreased[] […] deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy Cardiac valve dysplasia[]

  • Mucopolysaccharidosis 1

    Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[] Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[]

  • Prader-Willi Syndrome

    Only patients with an ultrasound, anteroposterior (AP) spine, AP abdomen, AP hip radiograph, and/or skeletal survey were included in the study.[] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[]

  • Malnutrition

    Face appears round with swollen abdomen and legs. Skin is dry and dark with splits or stretch marks like streaks where stretched.[]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Rimoin DL: Ph enotype-Genotype Correlations in the Skeletal Dysplasias. 2nd Meeting Bone Dysplasia Society, Versailles 1995. 216.[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155:943-968. Krakow D, Rimoin DL. The skeletal dysplasias.[]

  • Aarskog Syndrome

    With the observation that FGD1 mutations result in the skeletal dysplasia FGDY, accumulated data indicate that FGD1 signaling plays a critical role in ossification and skeletal[] face with widow's peak and, in one of them, ptosis of the eyelids.[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[]

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