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206 Possible Causes for Muscular Hypotonia in Infancy, Short Stature - 5th-10th Percentile

  • Moebius Syndrome

    Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case[…][ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Miller Dieker Syndrome

    Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain ( cerebral cortex ) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain[…][ghr.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Jacobsen Syndrome

    We report a neonate with pure deletion of distal 11q (11q23.3-- qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without[…][ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Dysplasia Type 1

    At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com] .: at ten years old she presented short stature for her age (  2.03 SD) with a reduced growth velocity (  4.07 SD) and a bone age of 4.5 years.[ijponline.biomedcentral.com]

  • Arthrogryposis due to Muscular Dystrophy

    Cusminsky : Muscular hypotonia in infancy; diagnosis and differentiation. Rev. canad. Biol. 21, 599 (1962).[link.springer.com]

    Missing: Short Stature - 5th-10th Percentile
  • Coxa Valga

    Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life.[ncbi.nlm.nih.gov] Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma.[ncbi.nlm.nih.gov] […] macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy[ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    A schematic approach to hypotonia in infancy. Paediatrics & Child Health. 2005;10(7):397-400. – Prior, T, Russman, B. Spinal Muscular Atrophy.[pediatricsectionwp.acep.org]

    Missing: Short Stature - 5th-10th Percentile
  • Kyphoscoliosis

    DYSTROPHY TYPE 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle[mendelian.co] CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient cmd1a merosin-negative congenital muscular dystrophy mdc1a congenital[mendelian.co] […] disability Seizures Short stature Generalized hypotonia Scoliosis SOURCES: OMIM MENDELIAN More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Low match CONGENITAL MUSCULAR[mendelian.co]

    Missing: Short Stature - 5th-10th Percentile
  • X-linked Distal Spinal Muscular Atrophy Type 3

    They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.[ghr.nlm.nih.gov] Abstract Purpose: X-linked infantile spinal-muscular atrophy (XL-SMA) is a rare disorder, which presents with the clinical characteristics of hypotonia, areflexia, and multiple[nature.com] Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).[ghr.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Distal Spinal Muscular Atrophy Type 3

    They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.[ghr.nlm.nih.gov] Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).[ghr.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile

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