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Copyright V. Ventruto / A. Di Luccio
Genus database
12491
hyalinosis, systemic, infantile
Eponyms:
Inheritance:
mitochondrial
supposed autosomal recessive
Semeiological Arthro-cutaneous-facial disorder. postneonatal onset; cry with pain , when moved; thickening of the skin, joint
contractures, gum hypertrophy, osteoporosis, failed to thrive, diarrhea, recurrent infections, widespread
Synthesis:
deposits of hyaline material.
Group
Sub group
Signs:
DERMATOLOGICAL DISORDERS
cutis, changes in appearance and/or features
cutis, thick
GASTROINTESTINAL DISORDERS
intestinal dysfunctions
malabsorption, including diarrhea
JOINT DISORDERS
joint, changes, not including laxity and
contractures
joint pain, including pain when moved
joint, mobility reduction
contractures, joint stifness, not including:
arthrogriposis, camptodactyly
LABORATORY DATA
infective agents
bacterial infections
recurrent infections, without specific
humoral/cellular immunity
tissue, biochemical changes
lethality, in
metabolic/immunological/environmental
disorders
mitochondrial defects
OROCRANIOFACIAL ANOMALIES
external ear malformations
ear lobe, nodules, swelling
facies, modified appearance
facies, coarse
lips, modified appearance
lips, swelling, including nodules
oral mucous membranes,changes
gingival hyperplasia, gum hypertrophy, broad
alveolar ridge
OTHERS
supergroups
arthro-facio-respiratory-skeletal disorders
arthro-facio-skeletal disorders
RESPIRATORY DISORDERS
respiratory distress
respiratory infections, recurrent, including
pneumonitis
SKELETAL DISORDERS
bones, lesions, structural changes
osteoporosis
fingers, modified form, deformity
fingers, stiff
knuckles, pigmentation
ossification, changes
osteopenia, bone hypodensity,
demineralization of the bones, deficient
ossification
hyalinosis, systemic, infantile
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Copyright V. Ventruto / A. Di Luccio
Genus database
stature, growth, modified habitus
growth delayed, failure to thrive, growth
retardation
stature, short, including micromelia, including
short limbs
Super group:
arthro-facio-respiratory-skeletal disorders
Super aggreg. INFECTIONS SUSCEPTIBILITY
recurrent infections, without specific humoral/cellular immunity
Aggregations:
LETHALITY
lethality, in metabolic/immunological/environmental disorders
Differential
diagnosis:
Bibliography
hyalinosis, systemic, infantile
27418 Cat-Magdalena syndrome
12490 hyalinosis systemic, Alfi type
17160 Murray syndrome
OMIM ID: 236490
Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.204
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