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Of 6 sibs, a female and 2 males died at the age of a few weeks.
All showed clonic convulsions, and at autopsy leptomeningeal hemorrhages.
In a black kindred earlier reported by 3944698]" pmid="3944698"Whyte et al. Study of the families brought to light 19 further cases.
The study suggests that the severe infantile form and the mild juvenile type are separate.
A number sign (#) is used with this entry because infantile hypophosphatasia is caused by homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL; 171760) on chromosome 1p36.
Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.13410963] [Full Text]" pmid="13410963"Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal, infantile, childhood (241510), and adult (146300). (1966) pointed out that premature shedding of teeth may be the only overt manifestation of the adult form.
Although they were impressed with the differences in the 2, it is noteworthy that the child with the infantile form was severely affected and that the infant with the lethal perinatal form was 1 of dizygotic twins.
Scriver and Cameron (1969) described a female infant with classic clinical features of hypophosphatasia but consistently normal levels of alkaline phosphatase in plasma by the usual tests which use high substrate concentrations. (1985) restudied the patient of 4309618] [Full Text]" pmid="4309618"Scriver and Cameron (1969) at the age of 21 years. She had had repeated midshaft femoral fractures that healed poorly, as well as scintigraphic evidence elsewhere of microfractures associated with bone pain.
(1987), Spranger (1988), and 1749675]" pmid="1749675"Igbokwe (1985) proposed a multiple allele system to explain the inheritance of hypophosphatasia in its several forms.
He designated the 3 alleles as H(N), H(C), and H(I). The genotype of childhood hypophosphatasia is H(C)H(C) or H(C)H(I).
Spranger (1974) subsequently determined that the disorder in these sibs was hypophosphatasia.7094944]" pmid="7094944"Wolff and Zabransky (1982) described a case of the congenital and lethal form.