610680

HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS


Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
GROWTH
Other
- Failure to thrive
HEAD & NECK
Head
- Microcephaly
- Brachycephaly
Face
- Sloping forehead
- Dysmorphic facies
Ears
- Narrow ear lobes
- Abnormal pinnae
Eyes
- Epicanthal folds
CHEST
Breasts
- Inverted nipples
GENITOURINARY
External Genitalia (Male)
- Micropenis
Internal Genitalia (Male)
- Cryptorchidism
SKELETAL
Hands
- Brachydactyly
- Tapering fingers
Feet
- Brachydactyly
SKIN, NAILS, & HAIR
Skin
- Recurrent skin infections
NEUROLOGIC
Central Nervous System
- Holoprosencephaly
- Interhemispheric cysts
- Agenesis of the corpus callosum
- Mental retardation, severe
IMMUNOLOGY
- Recurrent infections
- Monocytosis
- Abnormally large monocytes with vacuoles
- Monocytes show impaired motility
LABORATORY ABNORMALITIES
- Increased peripheral blood monocytes
MISCELLANEOUS
- Early death due to sepsis

TEXT

Clinical Features

Jubinsky et al. (2006) reported 3 sibs, born of nonconsanguineous Mexican parents, with holoprosencephaly (HPE), recurrent infections, and increased peripheral blood monocytes. All had microcephaly, dysmorphic facies, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by multiple recurrent respiratory and skin infections associated with peripheral blood monocytosis with abnormal morphology. Brain imaging and postmortem examination showed agenesis of the corpus callosum, interhemispheric cyst, lobar HPE, and other brain anomalies. The patients died of sepsis at ages 6 years, 8 months, and 4.5 years, respectively. Mutation analyses of genes known to be involved in HPE (see 236100) were negative. Since a previous infant born of a different father was also reportedly affected, the authors suggested a maternally transmitted autosomal dominant trait that may involve a defect in the monocyte/glial cell population.


REFERENCES

  1. Jubinsky, P. T., Shanske, A. L., Pixley, F. J., Montagna, C., Short, M. K. A syndrome of holoprosencephaly, recurrent infections, and monocytosis. Am. J. Med. Genet. 140A: 2742-2748, 2006. [PubMed: 17103456, related citations] [Full Text]


Creation Date:
Cassandra L. Kniffin : 1/3/2007
carol : 11/07/2012
carol : 1/5/2007
ckniffin : 1/3/2007

610680

HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS



TEXT

Clinical Features

Jubinsky et al. (2006) reported 3 sibs, born of nonconsanguineous Mexican parents, with holoprosencephaly (HPE), recurrent infections, and increased peripheral blood monocytes. All had microcephaly, dysmorphic facies, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by multiple recurrent respiratory and skin infections associated with peripheral blood monocytosis with abnormal morphology. Brain imaging and postmortem examination showed agenesis of the corpus callosum, interhemispheric cyst, lobar HPE, and other brain anomalies. The patients died of sepsis at ages 6 years, 8 months, and 4.5 years, respectively. Mutation analyses of genes known to be involved in HPE (see 236100) were negative. Since a previous infant born of a different father was also reportedly affected, the authors suggested a maternally transmitted autosomal dominant trait that may involve a defect in the monocyte/glial cell population.


REFERENCES

  1. Jubinsky, P. T., Shanske, A. L., Pixley, F. J., Montagna, C., Short, M. K. A syndrome of holoprosencephaly, recurrent infections, and monocytosis. Am. J. Med. Genet. 140A: 2742-2748, 2006. [PubMed: 17103456] [Full Text: https://doi.org/10.1002/ajmg.a.31542]


Creation Date:
Cassandra L. Kniffin : 1/3/2007

Edit History:
carol : 11/07/2012
carol : 1/5/2007
ckniffin : 1/3/2007