Hypertelorism

Reilly, William A.

doi:10.1001/jama.1931.02720490009001

Cited by 13 publications

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…If the abnormality is pronounced it is usually associated with dementia. Two cases of hypertelorism have been associated with Sprengel's shoulders (Slo-Bodkin, 1936;Reilly, 1931). It is thought worth while describing the following case as it appears to be the first one recorded in Europe, and to draw attention to Greig's original comments on the mechanism whereby the condition originates.…”

Section: Medical Memorandamentioning

confidence: 96%

Hypertelorism Associated with Poor Frontal Development of Skull and Bilateral Sprengel's Shoulders

James¹

1959

BMJ

View full text Add to dashboard Cite

Section: Medical Memorandamentioning

confidence: 96%

Hypertelorism Associated with Poor Frontal Development of Skull and Bilateral Sprengel's Shoulders

James¹

1959

BMJ

View full text Add to dashboard Cite

Delineation of the male phenotype in craniofrontonasal syndrome

et al. 1987

View full text Add to dashboard Cite

We are reporting on a 4-generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth finger clinodactyly (5/6), longitudinal grooves of nails (5/6), shawl scrotum (2/3 males), first degree hypospadias (1/3), and mild mental retardation (1/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.

show abstract

Craniofrontonasal dysostosis with deafness and axillary pterygia

et al. 1989

View full text Add to dashboard Cite

Craniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. Awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.

show abstract

Hypertelorism

Abstract: Hypertelorism is probably more common than reports indicate, and many readers may recall characteristic facies in their clinical experience. Reported cases are,

Cited by 13 publications

References 6 publications

Hypertelorism Associated with Poor Frontal Development of Skull and Bilateral Sprengel's Shoulders

Hypertelorism Associated with Poor Frontal Development of Skull and Bilateral Sprengel's Shoulders

Delineation of the male phenotype in craniofrontonasal syndrome

Craniofrontonasal dysostosis with deafness and axillary pterygia

Contact Info

Product

Resources

About