Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. Incidence is estimated at 1/15,000 births. Males are more frequently affected than females (sex ratio of 2:1) and the frequency of trigonocephalic twins is unexpectedly high. The premature closure of the metopic suture results in deformation of the anterior portion of ...

One of the most perplexing questions in clinical genetics is why patients with identical gene mutations oftentimes exhibit radically different clinical features. This inconsistency between genotype and phenotype is illustrated in the malformation spectrum of holoprosencephaly (HPE). Family members carrying identical mutations in sonic hedgehog (SHH) can exhibit a variety of facial features rang...

Snodgrass et al (1966) divided the D trisomy syndrome into two phenotypic categories based on facial appearance. Patients in their first category had facies associated with defects of prosencephalic cleavage. A striking finding was median cleft lip and palate. In addition there was orbital hypotelorism with severe ocular anomalies, hypoplasia or aplasia of the crista galli, of the median philtr...

Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman's partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12)(q34;q24,32). Partner's brother had an unbalanced form of the translocat...

The face is a reflection of our genome. Facial deformities are oftentimes harbingers of an underlying disease states. For example, decreased Hedgehog activity in the developing craniofacial region causes holoprosencephaly and close-set eyes (hypotelorism). We found that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, led to hypertelorism and fr...

Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Intracranial and extracranial findings were reviewed to determine the accuracy and spectrum of the sonographic features. All 14 cases were reliably distinguished from other causes of fetal hydrocephalus (n = 58) detected during the same period by demo...

Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS. However, the contribution of 22q11.2DS to the MD phenotype has not yet been investigated. This is the first population-based study measuring the frequency of 22q11.2DS among school children with MD. Children (1,56...

Chromosome 6 deletions are very rare (1,2), and deletion 6q syndrome is clinically characterized by mental and/or neuromotor retardation and microcephaly (3). Other alterations frequently observed are decreased biparietal diameter, hypertelorism, hypotelorism, absent eyebrows, prominent eyes with ptosis, receding chin, dysmorphic ears, large extremities, prominent nasal bridge, long philtrum, e...

PURPOSE The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molec...

The face is a reflection of our genome. Facial deformities are oftentimes harbingers of an underlying disease states. For example, decreased Hedgehog activity in the developing craniofacial region causes holoprosencephaly and close-set eyes (hypotelorism). We found that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, led to hypertelorism and fr...