Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. 1993

N Hashimoto, and Y Sakakihara, and Y Miki, and J Kagawa, and S Egi, and S Kamoshita
Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.

A 17 year old male patient with Moebius syndrome with pituitary dwarfism and unilateral hypoplastic optic disc is presented. Although there have been several reports of an association of Moebius syndrome and pituitary dysfunction, growth hormone deficiency has not been reported previously. These associations may give some insight into the pathogenesis of Moebius syndrome.

UI MeSH Term Description Entries
D008297 Male Males
D009886 Ophthalmoplegia Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. Oculomotor Paralysis,External Ophthalmoplegia,Internal Ophthalmoplegia,Ophthalmoparesis,External Ophthalmoplegias,Internal Ophthalmoplegias,Ophthalmopareses,Ophthalmoplegia, External,Ophthalmoplegia, Internal,Ophthalmoplegias,Ophthalmoplegias, External,Ophthalmoplegias, Internal,Paralysis, Oculomotor
D004393 Dwarfism, Pituitary A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. Growth Hormone Deficiency Dwarfism,Hypophysial Dwarf,Hyposomatotrophic Dwarfism,Pituitary Dwarf,Dwarfism, Growth Hormone Deficiency,Isolated GH Deficiency,Isolated Growth Hormone Deficiency,Isolated HGH Deficiency,Isolated Human Growth Hormone Deficiency,Isolated Somatotropin Deficiency,Isolated Somatotropin Deficiency Disorder,Nanism, Pituitary,Pituitary Dwarfism,Pituitary Nanism
D005158 Facial Paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis. Facial Palsy,Hemifacial Paralysis,Facial Palsy, Lower Motor Neuron,Facial Palsy, Upper Motor Neuron,Facial Paralysis, Central,Facial Paralysis, Peripheral,Facial Paresis,Lower Motor Neuron Facial Palsy,Upper Motor Neuron Facial Palsy,Central Facial Paralyses,Central Facial Paralysis,Facial Palsies,Facial Paralyses, Central,Facial Paralyses, Peripheral,Palsies, Facial,Palsy, Facial,Paralyses, Central Facial,Paralyses, Facial,Paralyses, Hemifacial,Paralysis, Central Facial,Paralysis, Facial,Paralysis, Hemifacial,Paralysis, Peripheral Facial,Pareses, Facial,Paresis, Facial,Peripheral Facial Paralysis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D013006 Growth Hormone A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. Growth Hormone, Recombinant,Pituitary Growth Hormone,Recombinant Growth Hormone,Somatotropin,Somatotropin, Recombinant,Growth Hormone, Pituitary,Growth Hormones Pituitary, Recombinant,Pituitary Growth Hormones, Recombinant,Recombinant Growth Hormones,Recombinant Pituitary Growth Hormones,Recombinant Somatotropins,Somatotropins, Recombinant,Growth Hormones, Recombinant,Recombinant Somatotropin
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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