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89 Possible Causes for Severe Micromelia

  • Achondrogenesis Type 1B

    Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers[monarchinitiative.org] Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal[ncbi.nlm.nih.gov] Macroscopical synopsis large head short trunk severe micromelia no ossification of vertebra, ischial and pubic bones severe micromelic dwarfism cleft palate cystic hygroma[humpath.com]

  • Achondrogenesis

    Abstract Achondrogenesis is a phenotypically diverse group of lethal osteochondrodysplasias characterized by severe micromelia, a short trunk, and a disproportionately large[ncbi.nlm.nih.gov] In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation.[ncbi.nlm.nih.gov] Characterized by severe micromelia, lack of vertebral ossification, and a large head with relatively normal ossification of the calvarium; also associated with polyhydramnios[mhmedical.com]

  • Saldino-Noonan Syndrome

    These patients have very short ribs, severe pulmonary hypoplasia, micromelia, and polydactyly.[mhmedical.com] micromelia.[mhmedical.com] Sonographic characteristics common to all the subtypes of the short-rib polydactyly syndromes include short horizontal ribs and long tubular bone changes that result in severe[mhmedical.com]

  • Achondrogenesis Type 2

    Characterized by severe micromelia, lack of vertebral ossification, and a large head with relatively normal ossification of the calvarium; also associated with polyhydramnios[mhmedical.com] Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal[ncbi.nlm.nih.gov] Absent sacrum and pubic bone Severe micromelia. Short long bones (radius, femur and especially ulna) without bowing.[fetalultrasound.com]

  • Skeletal Dysplasia

    It should be reserved for cases with severe micromelia below the 3(rd) percentile and for those with micromelia  10(th) percentile associated with another bone sign.[ncbi.nlm.nih.gov] micromelia, thoracic hypoplasia, hydropic fetal appearance Prenatal or newborn lethality TRPV4 Metatropic dysplasia; parastremmatic dwarfism; spondyloepiphyseal dysplasia[arupconsult.com] The siblings each presented with severe myopia, hearing loss, micromelia, metaphyseal widening of the long bones, micrognathia, and airway compromise requiring tracheostomy[ncbi.nlm.nih.gov]

  • Boomerang Dysplasia

    There is severe micromelia with unossified humeri, absent femora, and severely bowed and shortened radii, ulnae, and tibiae.[doi.org] Individual 2 was a fetus of 17 weeks’ gestation, previously reported in detail by Wessels et al.8 This fetus demonstrated severe micromelia with two of the three long tubular[mafiadoc.com] Individual 2 was a fetus of 17 weeks’ gestation, previously reported in detail by Wessels et al . 8 This fetus demonstrated severe micromelia with two of the three long tubular[jmg.bmj.com]

  • Kyphomelic Dysplasia

    Severe micromelia. 2. Small thoracic circumference. 3. Small trunk. 4. Macrocrania. 5.[quizlet.com] Most common lethal skeletal dysplasia. 1 in 10,000 Thanatophoric dysplasia features Shortened limbs (severe micromelia) -can be seen as early as 19 weeks gestation.[quizlet.com] Micromelia. 4. Hitchhiker thumb. 5.[quizlet.com]

  • Metaphyseal Acroscyphodysplasia

    The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[ncbi.nlm.nih.gov] We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating[pure.unipa.it] […] short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes[pure.unipa.it]

  • Short Rib-Polydactyly Syndrome

    Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected.[ncbi.nlm.nih.gov] These patients have very short ribs, severe pulmonary hypoplasia, micromelia, and polydactyly.[mhmedical.com] micromelia, short ribs with narrow thorax, and polydactyly at ultrasound ( 13 , 14 ).[synapse.koreamed.org]

  • Fibrochondrogenesis

    Severe micromelia. Rhizomelic limb shortening. Short, broad dumbell-shaped metaphyses. Pear shaped vertebral bodies. Short, distally cupped ribs.[fetalultrasound.com] A narrow chest, moderately severe micromelia, and markedly enlarged joints are usually noted in fibrochondrogenesis. The head and neck are proportionate.[ncbi.nlm.nih.gov]

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