Biomaterial Database

[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)]. 1979

G Benz, and A Statz

A 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.

UI	MeSH Term	Description	Entries
D009123	Muscle Hypotonia	A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.	Flaccid Muscle Tone,Hypotonia,Decreased Muscle Tone,Floppy Muscles,Hypomyotonia,Hypotony, Muscle,Muscle Flaccidity,Muscle Tone Atonic,Muscle Tone Poor,Muscular Flaccidity,Muscular Hypotonia,Neonatal Hypotonia,Unilateral Hypotonia,Flaccidity, Muscle,Flaccidity, Muscular,Floppy Muscle,Hypotonia, Muscle,Hypotonia, Muscular,Hypotonia, Neonatal,Hypotonia, Unilateral,Hypotonias, Neonatal,Hypotonias, Unilateral,Muscle Hypotony,Muscle Tone Atonics,Muscle Tone, Decreased,Muscle Tone, Flaccid,Muscle, Floppy,Muscles, Floppy,Muscular Flaccidities,Neonatal Hypotonias,Tone Atonic, Muscle,Tone Poor, Muscle
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004392	Dwarfism	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.	Nanism
D005260	Female		Females
D006529	Hepatomegaly	Enlargement of the liver.	Enlarged Liver,Liver, Enlarged
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013163	Splenomegaly	Enlargement of the spleen.	Enlarged Spleen,Spleen, Enlarged