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440 Possible Causes for Micromelia

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  • Saldino-Noonan Syndrome

    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[] Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones).[]

  • Achondrogenesis

    Abstract Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios.[] Abstract Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia.[] Abstract Achondrogenesis is a lethal form of congenital chondrodystophy characterised by extreme micromelia.[]

  • Short Rib-Polydactyly Syndrome Type Majewski

    Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia[] The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly[]

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

    CONCLUSION: Polydactyly, micromelia, metaphyseal spurs, widened humeral metaphyses, and shortened ribs can be prominent prenatal ultrasound findings of SRPS III.[] […] atresia ; Facial cleft ; Frontal bossing ; Hydronephrosis ; Hydrops fetalis ; Hypoplasia of penis ; Lethal skeletal dysplasia ; Long philtrum ; Macrocephaly ; Micrognathia ; Micromelia[] Karger AG, Basel References Saldino RM, Noonan CD: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral[]

  • Metaphyseal Acroscyphodysplasia

    The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[] We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating[] […] 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[]

  • Achondrogenesis, Type 1A

    Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium.[] […] wedged-shape femur with proximal metaphyseal spike short broad tibia short radius unossified hands unossified feet micromelia absence of ossification of vertebral bodies,[] In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.[]

  • Short Rib-Polydactyly Syndrome

    It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement.[] The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly.[] […] 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[]

  • Achondrogenesis Type 2

    Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium.[] Abstract Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia.[] Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal[]

  • Dyssegmental Dysplasia Type Silverman-Handmaker

    METHODS: We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis[] (a) Theupper extremity demonstrates severe micromelia with jointcontracture at the elbow (arrow).[] دیسپلازی AbstractDyssegmental، سیلورمن-Handmaker نوع (DDSH)، یک نوع اتوزوم مغلوب کشنده کوتولگی با micromelia anisospondylic مشخصه است.[]

  • Thanatophoric Dysplasia Type 1

    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[] Disease definition Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.[] Background information for Thanatophoric Dysplasia, Types I and II ( FGFR3 ) 13 Mutations Characteristics: Micromelia, macrocephaly, short ribs and a narrow thorax; TD I has[]

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