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Short Stature and Facio-Auriculo-Thoracic Malformations

Short Stature and Facioauriculothoracic Malformations


Presentation

  • Two other sibs presented almost the same dysmorphic features; one girl died at age 6(1/4) years after an acute episode of renal insufficiency, and one boy died at 40 days of age.[unboundmedicine.com]
  • Also, they had a sister and a brother who had presented the same features of the affected sibs, but they died.[cags.org.ae]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.de]
  • Our present patient presented with minimal facial features, but with profound limb defects of preaxial radial ray-thumb aplasia entity. Autosomal recessive pattern of inheritance was suggested in connection with parental consanguinity.[casesjournal.biomedcentral.com]
Proportionate Short Stature
  • short stature Obsessive-compulsive behavior Self-injurious behavior Stereotypy Thickened skin Attention deficit hyperactivity disorder Abnormal heart morphology Absent speech Abnormality of cardiovascular system morphology Coarctation of aorta Hypermetropia[mendelian.co]
Cup-Shaped Ears
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears small ears cup-shaped ears overfolded helices Head And Neck Eyes: ptosis Head And Neck Mouth: cleft palate cleft lip high-arched palate Chest Ribs Sternum Clavicles And Scapulae[malacards.org]
Short Neck
  • The sibs had short stature, microcephaly, ptosis, dysplastic ears, high arched palate or cleft lip/ palate, short neck, pectum excavatum and carinatum, cardiac malformation and mild cervical, and/or lumbar spine malformations.[cags.org.ae]
  • neck Head And Neck Head: microcephaly Cardiovascular Heart: ventricular septal defect Growth Height: short stature, proportionate[malacards.org]
  • Abstract Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum.[unboundmedicine.com]
  • Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum.[ncbi.nlm.nih.gov]
  • Short neck, barrel chest. rhizomely and brachydactyly (broad thumbs, interdigital webs). Platyspondyly and vertebral clefts.[sites.uclouvain.be]
Neonatal Hypotonia
  • Hypotonia Mollica Pavone Antener Syndrome Morillo-Cucci Passarge Syndrome Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism mulibrey nanism Multisystem Autoimmune Disease, with Facial Dysmorphism Myelodysplasia[rgd.mcw.edu]

Treatment

  • The treatment for these is provided by very few centers and there is a decline in expertise especially in the UK due to rationing.[books.google.de]
  • The sister died at the age of six years from cardiac arrest after acute renal failure following a treatment for an episode of seizures and the boy died at 40 days of age.[cags.org.ae]
  • Indications: Help to stop tobacco addiction Treatments against the pain: sciatica, shoulder pain, trigeminus neuralgias, zonas, etc. Treatment of functional diseases: motoric diarrhoes, constipation, migraine, etc.[auriculo.biz]
  • Treatment is customized for each patient and may include surgery on the cheeks, jaw, eyes, ears, teeth, and palate. Speech therapy and hearing aids may also be used. Head and Neck Oncology.[childrenshospital.vanderbilt.org]
  • Case presentation The boy was referred to the orthopaedic department because of multiple limb defects for clinical assessment and treatment. He was a product of uneventful gestation. At birth his growth parameters were around the 10 Th percentile.[casesjournal.biomedcentral.com]

Etiology

  • Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediatr 1981;98:88-91. Back to cited text no. 9 10. Thomas P. Goldenhar syndrome and hemifacial microsomia:Observations on three patients. Eur J Pediatr 1980;133:287-92.[bioline.org.br]

Prevention

  • This prevents the head from growing normally and affects the shape of the face. Some of the child's fingers and toes may also be webbed or fused together. In addition, some people may have intellectual disabilities that range from mild to severe.[childrenshospital.vanderbilt.org]
  • MURCS Association สารบัญ Contents: -- Chapter 2 Morphogenesis and Dysmorphogenesis -- Chapter 3 Genetics, Genetic Counseling, and Prevention Chapter 4 Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes Chapter[118.174.31.60]

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