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1,328 Possible Causes for Cartilage Biopsy Abnormal, Dysmorphic Face, Severely Disproportionate Short Stature

  • Leri-Weill Dyschondrosteosis

    Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[ncbi.nlm.nih.gov] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[accessanesthesiology.mhmedical.com] […] clinical form that includes a disproportionately short stature.[frontiersin.org]

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[symptoma.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com] Both have dysmorphic faces, while myopia and cleft palate may be present.[raredisorders.imedpub.com]

  • Schmid Metaphyseal Chondrodysplasia

    The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] The dysmorphias are represented by triangular face, down‐slanted palpebral fissure, hypertelorism, low‐set ears and pterygium colli.[intechopen.com] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm. 2.1.1.3.[intechopen.com]

  • Skeletal Dysplasia

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com] […] form of disproportionate short-limb short stature.[en.wikipedia.org]

    Missing: Cartilage Biopsy Abnormal
  • Cleidocranial Dysplasia

    The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[omjournal.org] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] Bhat MA, Laway BA, Mantoo S, Choudry K, Kotwal S, et al. (2012) Cleidocranial dysplasia: a rare cause of disproportionate severe short stature. Oman Med J 27: 408-410.[omicsonline.org]

    Missing: Cartilage Biopsy Abnormal
  • Chondrodystrophy

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org] Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature[ncbi.nlm.nih.gov]

    Missing: Dysmorphic Face
  • Osteogenesis Imperfecta

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] stature.[doi.org] […] osteochondrodysplasias. [2], [26], [27] Patients with MED usually manifest in early-to-mid childhood with deteriorating joint pain and stiffness and tend to develop a milder form of short[doi.org]

    Missing: Cartilage Biopsy Abnormal
  • Russell-Silver Syndrome

    Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

    Missing: Cartilage Biopsy Abnormal
  • Diastrophic Dysplasia

    BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov] Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and[ncbi.nlm.nih.gov]

    Missing: Cartilage Biopsy Abnormal
  • Mucopolysaccharidosis 6

    Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[disorders.eyes.arizona.edu] Affected individuals often exhibit short stature due to growth restrictions.[rarediseases.org]

    Missing: Cartilage Biopsy Abnormal