Within the last year
Within the past 3 years
1 - 10 of 22 articles
10.1002/ajmg.1320160216.abs A family in which a fragile site at 16q22 was segregating was ascertained through a newborn infant with multiple anomalies. The same fragile site was present in the phenotypically normal father and in a brother with cleft palate. The fra(16)(q22) was similar in...
10.1002/ajmg.1320160212.abs Tricho‐dento‐osseous (TDO) syndrome is an autosomal dominant disorder characterized by abnormalities of hair, teeth, and bone. We report on a family that seems to illustrate further clinical heterogeneity in the TDO syndrome. Although variable expression of a...
10.1002/ajmg.1320160207.abs The hematological status of 81 infants with Down syndrome was reviewed retrospectively. Twenty babies had no hematological evaluation, 33 had a normal hematological status, and 28 had at least one abnormality, either of hematocrit, white cell count, or platelet count....
10.1002/ajmg.1320160203.abs I report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle‐stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and...
10.1002/ajmg.1320160213.abs We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf‐mute and to normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female...
10.1002/ajmg.1320160210.abs Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension...
Read and print from thousands of top scholarly journals.
Sign up with Facebook
Sign up with Google
Already have an account? Log in
Save this article to read later. You can see your Read Later on your DeepDyve homepage.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Sign Up Log In
To subscribe to email alerts, please log in first, or sign up for a DeepDyve account if you don’t already have one.
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.