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232 Possible Causes for Severe Micromelia

  • Achondrogenesis Type 1B

    In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.[malacards.org] 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]

  • Kyphomelic Dysplasia

    Severe micromelia. 2. Small thoracic circumference. 3. Small trunk. 4. Macrocrania. 5.[quizlet.com] Hydrops AR Lethal Type IB Macrocephlay Micrognathia Narrow thorax, occasional rib fractures Severe micromelia Poor ossification of skull, spine and pelvis DTDST AR Lethal[perinatology.com] […] recessive Type 2 - Langer - Saldino - Autosomal dominant Difficult to distinguish clinically Both result in stillbirth or neonatal death 26 Achondrogenesis - Clinical Features severe[slideplayer.com]

  • Multiple Epiphyseal Dysplasia - Severe Proximal Femoral Dysplasia

    Hydrops AR Lethal Type IB Macrocephlay Micrognathia Narrow thorax, occasional rib fractures Severe micromelia Poor ossification of skull, spine and pelvis DTDST AR Lethal[perinatology.com] Micromelia Bowed lower extremities Other: Craniosynostosis, blue sclera ALPL AR Lethal Atelosteogenesis I Rare Narrow thorax Eleven pairs of ribs Severe rhizomelia Absent[perinatology.com] AD Nonlethal Achondrogenesis Common Type IA Macrocephlay Micrognathia Narrow thorax, rib fractures Severe micromelia Poor ossification of skull, spine and pelvis Polyhydramnios[perinatology.com]

  • Greenberg Dysplasia

    Fetal ultrasonography at 20 weeks' gestation showed hydrops fetalis, severe micromelia, irregular hyperechogenic foci in the ribs and vertebral bodies, irregular hypo- and[ncbi.nlm.nih.gov] This was the result of severe micromelia, as shown in fig 1(C).[jmg.bmj.com] Smaller or shorter than typical limbs 0002983 Platyspondyly Flattened vertebrae 0000926 Rhizomelia Disproportionately short upper portion of limb 0008905 Severe short-limb[rarediseases.info.nih.gov]

  • Diastrophic Dysplasia

    Severe micromelia (predominantly rhizomelic). Multiple joint contractures. Dislocation of one or more large joints. Clubfoot. Ulnar deviation of hands.[fetalultrasound.com] In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. {ECO:0000269 PubMed:8528239}.[genecards.org] Atelosteogenesis type II is characterized by marked shortness of the arms and legs (micromelia), outward deviation (abduction) of the thumbs and great toes, and severe deformity[peachynay.tripod.com]

  • Atelosteogenesis

    Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes.[ncbi.nlm.nih.gov] AOII is characterized by severe micromelia, spinal abnormalities, talipes equinovarus and abducted thumbs and toes.[ctgt.net] Abstract: Atelosteogenesis is a lethal chondrodysplastic disorder characterized by severe micromelia and spinal abnormalities, including a heterogeneous group of disorders[cmuir.cmu.ac.th]

  • Achondrogenesis, Type 1A

    In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.[malacards.org] 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] In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease.[uniprot.org]

  • 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] Severe micromelia, flat vertebral bodies, narrow/short thorax, frontal bossing, cloverleaf skull, protuberant abdomen, hypertolerism, etc.[quizlet.com]

  • Femoral Agenesis - Femoral Hypoplasia

    Hydrops AR Lethal Type IB Macrocephlay Micrognathia Narrow thorax, occasional rib fractures Severe micromelia Poor ossification of skull, spine and pelvis DTDST AR Lethal[perinatology.com] Micromelia Bowed lower extremities Other: Craniosynostosis, blue sclera ALPL AR Lethal Atelosteogenesis I Rare Narrow thorax Eleven pairs of ribs Severe rhizomelia Absent[perinatology.com] AD Nonlethal Achondrogenesis Common Type IA Macrocephlay Micrognathia Narrow thorax, rib fractures Severe micromelia Poor ossification of skull, spine and pelvis Polyhydramnios[perinatology.com]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    Ultrasonogram depicts severe micromelia and deformity secondary to fractures (open arrow). C.[kjronline.org] Postmortem radiograph show decreased mineralization and severe micromelia, with innumerable fractures.[kjronline.org] Severe rhizomelic micromelia with bowing is observed, the thorax is narrow and bell shaped, and the ribs are shortened.[kjronline.org]

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