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13 Possible Causes for Narrow Greater Sacrosciatic Notch, Pediatric Disorder, Severely Disproportionate Short Stature

  • Dyggve-Melchior-Clausen Syndrome

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Completely updated, the new edition of this easy-to-reference text examines the physiological, biochemical, and genetic aspects of pediatric endocrine disorders.[books.google.es] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Platyspondyly

    Prevalence and characteristics of fetal alcohol spectrum disorders. Pediatrics 2014;134:855–66. O’Leary LA, Ortiz L, Montgomery A, et al.[imic.or.jp] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Distal Symphalangism

    J Pediatr Orthop 8(5): 554-557. Trail, I. A. (1998). "The prevalence of work-related upper limb disorders in a printing factory." Occup Med (Lond) 48(1): 23-26.[upperlimb.wrightington.com] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    [J Pediatr 1963;63:106-112] might have had the same disorder. Afterwards, however, no additional report has emerged to date.[karger.com] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov]

  • Pelviscapular Dysplasia

    - See Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus[herenciageneticayenfermedad.blogspot.com] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Eosinophilic esophagitis Dermatitis herpetiformis Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) Primary biliary cirrhosis[csirnotes.com] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Metaphyseal Chondrodysplasia Type Kaitila

    You’ll benefit from unique, global perspectives on adult and pediatric endocrinology prepared by an international team of renowned authorities.[books.google.com] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[mendelian.co] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    H01361 Eosinophilic esophagitis H01362 Dermatitis herpetiformis H01452 Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection H01476 Behcet[genome.jp] greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[mendelian.co] Eosinophilic esophagitis Dermatitis herpetiformis Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) Primary biliary cirrhosis[csirnotes.com]

  • Rhizomelic Syndrome Type Urbach

    You are about to send Contents 2 - Genetics of neurocutaneous disorders pp 6-23 By Kit-Sing Au , Division of Medical Genetics, Department of Pediatrics, The University of[cambridge.org] greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[mendelian.co] short stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[en.wikipedia.org]