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725 Possible Causes for Micromelia

  • Boomerang Dysplasia

    Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones.[ncbi.nlm.nih.gov] The authors report a case of lethal neonatal dwarfism characterized by striking micromelia, fused rudimentary and supernumerary digits, large, soft head, pronounced hypertelorism[ncbi.nlm.nih.gov] […] produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and micromelia[en.wikipedia.org]

  • Nivelon-Nivelon-Mabille Syndrome

    The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia[ncbi.nlm.nih.gov] Very frequent (99-80%) HP:0000252 4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486 5 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774 6 micromelia[malacards.org] […] pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia[mendelian.co]

  • Saldino-Noonan Syndrome

    Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones).[orpha.net] Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular[ncbi.nlm.nih.gov]

  • Short Rib-Polydactyly Syndrome

    It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement.[ncbi.nlm.nih.gov] The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly.[ncbi.nlm.nih.gov] […] report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia[ncbi.nlm.nih.gov]

  • Schneckenbecken Dysplasia

    Megarbane-Dagher-Melki Type chondrodysplasia-pseudohermaphroditism syndrome chronic granulomatous disease cleidocranial dysplasia Cleidorhizomelic Syndrome Cloverleaf Skull Micromelia[rgd.mcw.edu] (A) AP full body radiograph showing a small thorax, micromelia, metaphyseal widening of the long bones, and characteristic snail-shaped iliac wings.[ncbi.nlm.nih.gov] Fibular hypoplasia Hypoplastic ilia Hypoplastic scapulae Hypoplastic vertebral bodies Increased fibular diameter Lateral clavicle hook Lymphedema Macrocephaly Malar flattening Micromelia[dovemed.com]

  • Metaphyseal Acroscyphodysplasia

    We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating[pure.unipa.it] The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[ncbi.nlm.nih.gov] […] characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia[malacards.org]

  • Platyspondyly

    Atelosteogenesis type 1 (micromelia, decreased bone ossification; lethal form of dwarfism).[fetalultrasound.com] Micromelia: Shortening of all segment of the extremities. Campomelia: Bowing of the long bones.[perinatology.com] AD Nonlethal Type II Poor ossification of skull Blue sclera Micromelia with fractures and campomelia Narrow thorax with or without rib fractures Platyspondyly Generalized[perinatology.com]

  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    TD type 1 (TD1) is characterized by severe micromelia, with curved long bones (especially the femora) having a “telephone receiver” appearance.[radiologykey.com] TD is a lethal skeletal dysplasia classified as TD type 1 with micromelia, bowed femurs, with or without cloverleaf skull and TD type 2 with straight femurs and cloverleaf[ashg.org] KEYWORDS: Clover leaf skull, congenital, micromelia, platyspondyly, Thanatophoric dysplasia.[jemds.com]

  • Thanatophoric Dysplasia

    Spirt et al further subdivide Micromelic dysplasia into mild micromelia, mild and bowed micromelia and severe micromelia [3].[ijri.org] TD type 1 (TD1) is characterized by severe micromelia, with curved long bones (especially the femora) having a “telephone receiver” appearance.[radiologykey.com] The patient underwent a follow-up scan at 19 weeks which demonstrated ultrasound findings consistent with severe rhizomelic micromelia.[ncbi.nlm.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and[ncbi.nlm.nih.gov] ; Intrauterine growth retardation ; Knee flexion contracture ; Large hands ; Limb undergrowth ; Long clavicles ; Long foot ; Low-set ears ; Microcephaly ; Micrognathia ; Micromelia[mousephenotype.org]

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