NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MANt 267 Page 1 Case reports
NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MANt u. Burck Depr. of Human Genetics …

The majority of patients with hemifacial microsomia (HM) including Goldenhar syndrome are
sporadic cases. The sporadic nature of this disorder is emphasized by the discordant …

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth,
and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase …

Ultrastructural examination of peripheral lymphocytes was performed in 28 cases of various
lysosomal diseases, including infantile, late infantile and juvenile neuronal ceroid …

The case of a female infant with athelia is reported. Her mother, maternal aunt and
grandmother show hypodontia, sparse hair and small breasts associated with mammillary …

Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and
trisomic clones. - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe …

Of monozygotic male twins with holoprosencephaly, one showed by computer tomographic
(CAT) scan a mild type with orbital hypotelorism, flat nose, bilateral cleft lip, and cleft palate …

A girl with unilateral partly depigmented, partly hyperpigmented atrophic skin lesions,
hypertrichosis, postauricular nodules, cataracts, and mild mental retardation is presented …

Two unrelated girls presented the identical clinical and radiological findings of shortened
middle limb segments, slight punctate epiphyseal calcification, relatively short distal ulnae …

Fingerprint (FP) profiles in vacuolated lymphocytes of mucopolysaccharidoses IH, II, III-A,
and III-B are a numerically rare, but possibly consistent finding as they have not been seen …