Cebocephaly, a form of holoprosencephaly, in a 4-month-old girl with<unk> <unk>  causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. Congenital anomalies About 10–15% of individuals with<unk>  have holoprosencephaly. Approximately 10% of people with<unk>  have a congenital heart anomaly. There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. Septal defects, tetralogy of Fallot, dextrocardia, and coarctation of the aorta have all been reported in infants with<unk> . Neurologic Hypotonia is frequently seen in the<unk>  population. Seizures, though uncommon, have been reported in people with<unk> . Dystonia has also been diagnosed in a small minority of young adults with<unk> . Also, tethered cord has been reported in a few people with<unk> . Vision Ptosis is quite common among people with<unk> . In many cases, surgical correction is required. Refractive errors, such as myopia, hyperopia, and astigmatism, are also prevalent. Strabismus has been reported in infants and children with<unk> . Nystagmus is also present in a minority of individuals. Ear and Sinus Infections Children with<unk>  have an increased incidence of ear infections, often requiring the placement of PE tubes. Hearing Conductive hearing loss may occur due to otitis media. Gastrointestinal Chronic constipation is a frequent complaint in the<unk>  population. Other abdominal abnormalities that have been reported include inguinal hernias; malrotation of the gut; and abnormalities of the spleen. Genitourinary Genitourinary abnormalities are not common in<unk> . There have been a few cases of small penis and cryptorchidism in males and uterine abnormalities in females. Orthopedics There have been several orthopedic concerns identified in individuals with<unk> . These include pes planus, clubfoot, scoliosis and/or kyphosis, pectus abnormalities, cubitus valgus, congenital hip dysplasia, spina bifida occulta, and genu valgum. Endocrinology Growth hormone deficiency has been reported in several individuals with<unk> , though not at the same frequency as in the distal<unk>  population. Panhypopituitarism and hypothyroidism have each been diagnosed in a handful of individuals. Also, ketotic hypoglycemia has been reported in several individuals and usually presents itself around the age of three. Psychiatry There is an increased incidence of psychiatric conditions within the distal<unk>  population. In one study, 2 of 3 people with<unk>  had an anxiety disorder, 1 of 3 had a communication disorder, and 1 of 3 had a motor skills disorders, and 1 of 3 had a stereotypic movement disorder. Additional research with a larger number of subjects is necessary to confirm these findings. Cognition and adaptive skills Cognitive ability in individuals with<unk>  varies widely, with most falling in the mild to moderate range of impairment, though there have been some reports of people with impairment in the severe to profound range. These individuals may have had holoprosencephaly, which is frequently associated with severe impairment. Speech deficits are quite common within this population. Frequently, expressive speech lags behind other developmental parameters. Dysmorphology Common facial features include a flat and broad nasal bridge; epicanthic folds; wide mouth; short philtrum; everted lower lip; small and slightly receding chin during childhood. The ears may be low-set and posteriorly rotated. The posterior hairline may be low.
18p-
RUB A535
ZF2001
714-X
Rc-o319
MIS416
SOS box
T-47D