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15 Possible Causes for Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature, Short Disproportionate Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked[] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[]

  • Dyggve-Melchior-Clausen Syndrome

    It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies.[] greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[]

  • Pelviscapular Dysplasia

    Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ...[] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[] Pachygyria Anophthalmia Congenital muscular dystrophy Hypoplasia of the brainstem Severe muscular hypotonia Retinal atrophy Optic nerve hypoplasia Atresia of the external[]

  • Platyspondyly

    30% cases Mucopolysacchariduria Hip osteoarthritis Thoracic kyphosis Disproportionate short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal[] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies.[] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[] short stature, bowed femurs and tibias, short and broad phalanges, loose ligaments with characteristic incomplete extension of the elbows and sparse hair, and was first described[]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof[] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[] The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and ...Spondylometaphyseal dysplasia, Kozlowski[]

  • Distal Symphalangism

    There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[]

  • Metaphyseal Chondrodysplasia Type Kaitila

    Disproportionate short-limb short stature MedGen UID: 342370 • Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an[] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    Medium match HYPOCHONDROPLASIA Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.[] 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[] short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.][]

  • Rhizomelic Syndrome Type Urbach

    Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures.[] greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[] Despite the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter is less severe. [3] Signs and symptoms [ edit ] Disproportionate[]

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