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591 Possible Causes for Micromelia

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  • Acromesomelic Dysplasia

    […] dysplasia, Grebe type Search Ontology: Synonyms: GREBE CHONDRODYSPLASIA Definition: An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia[] ID 929 ICD-10 ICD-9-CM OMIM OMIM:200700; SNOMED-CT Orphanet MeSH DO Defination An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia[] Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs.[]

  • Leukoencephalopathy - Metaphyseal Chondrodysplasia Syndrome

    Xp11.23-p11.22 duplication syndrome Chromosome Xq28 Duplication Syndrome Cleft Palate with Ankyloglossia cleidocranial dysplasia Cleidorhizomelic Syndrome Cloverleaf Skull Micromelia[] Cloverleaf skull micromelia thoracic dysplasia 0 *Bone Diseases *Osteochondrodysplasias Skull/abnormalities.[] Overgrowth Metatropic Dwarfism Metatropic Dwarfism, Type II Microcephalic Osteodysplastic Primordial Dwarfism Microcephaly Microcornea Syndrome Seemanova Type Microcephaly-Micromelia[]

  • Kleiner Holmes Syndrome

    It is characterized by micromelia, short ribs, hypoplastic thorax, polydactyly (pre- and postaxial), and multiple anomalies of major organs.[] Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia[] The gross autopsy findings [Figure 6] , such as the bell-shaped thorax, micromelia, pre- and postaxial polysyndactyly, and the clefting of upper lip, along with the histopathological[]

  • Multiple Epiphyseal Dysplasia - Severe Proximal Femoral Dysplasia

    Micromelia: Shortening of all segment of the extremities. Campomelia: Bowing of the long bones.[] AD Nonlethal Type II Poor ossification of skull Blue sclera Micromelia with fractures and campomelia Narrow thorax with or without rib fractures Platyspondyly Generalized[] Hydrops AR Lethal Type IB Macrocephlay Micrognathia Narrow thorax, occasional rib fractures Severe micromelia Poor ossification of skull, spine and pelvis DTDST AR Lethal[]

  • Diabetic Embryopathy

    It may be similar to "insulin micromelia" produced in chickens by insulin injection of the incubating egg.[]

  • 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[] absent ossification - Autosomal recessive inheritance - Lymphedema - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Red cell disorders - Rhizomelic micromelia[] […] vertebra 0100569 Anterior rib punctate calcifications 0006619 Brachydactyly Short fingers or toes 0001156 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Micromelia[]

  • Arhinencephaly

    Various clinical presentations of AOS include oligohydramnios, cutis marmorata, upper limb micromelia and brachypodia, acrania, microcephaly, palatine or auricular malformations[]

  • Poland Syndrome

    Common Features Shorter segments of the proximal limbs than the middle and distal parts or Rhizomelic micromelia Presence of a simian crease on the affected part Asymmetry[]

  • Diastrophic Dysplasia

    The reported case here presented with short limbs ,deformed ear, bilateral club foot, micromelia, proximally displaced thumb and short stature consistent with DTD.[] Severe micromelia (predominantly rhizomelic). Multiple joint contractures. Dislocation of one or more large joints. Clubfoot. Ulnar deviation of hands.[] 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[]

  • Atelosteogenesis

    The present fetus had rhizomelic micromelia with absence of ossification in the humerus, radius, ulna, and cervical and upper thoracic vertebral bodies; coronal clefts in[] Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes.[] AOII is characterized by severe micromelia, spinal abnormalities, talipes equinovarus and abducted thumbs and toes.[]

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