Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos.
Isochromosomes ; Hypertelorism

No abstract available.
Acrocephalosyndactylia* ; Hypertelorism* ; Orbit*

Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal tip, and a widow's peak hairline. Frontonasal dysplasia is mostly inherited and caused by the ALX genes (ALX1, ALX3, and ALX4). We report a rare case of a frontonasal dysplasia patient with mild hypertelorism, a broad nasal root, an underdeveloped nasal tip, an accessory nasal tag, and a widow's peak. We used soft tissue re-draping to achieve aesthetic improvements.
Humans ; Hypertelorism ; Phenotype

PURPOSE: A meningoencephalocele is a congenital malformation involving herniation of the meninges and cerebral tissue through a defect in the skull. For the patient with frontoethmoidal meningoencephalocele with hypertelorism, the removal of the meningoencephalocele without correction of the combined hypertelorism is not enough for getting a good cosmetic appearance. Correction of the hypertelorism is needed for cosmetic problem. We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. METHODS: The meningoencephalocele was removed and the hypertelorism was corrected by central segment technique. The bone defects were filled with autogenous bone dusts. And the nose was reconstructed by a calvarial bone graft. RESULTS: The patient had a good cosmetic appearance without any neurological complications without serious complications. CONCLUSION: We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. And a brief review of related literatures is given.
Cosmetics ; Dust ; Humans ; Hypertelorism ; Meninges ; Nose ; Skull

No abstract available.
Bone Diseases, Developmental ; Craniofacial Abnormalities ; Hyperostosis ; Hypertelorism

Craniofacial clefts are rare, mysterious and variable congenital anomalies. The incidence of craniofacial clefts is at least 1 per 100,000 live births. The cause of craniofacial clefts remains obscure, and attempts to classip craniofacial clefts are replete with problems. Tessier presented his classification in 1973 and used the orbit to distinguish the facial clefts from the cranial clefts. He noted that those lesions that involve both the face and cranium tend to do so in a consistent, predictable fashion. The clefts are numbered from 0 to 14 and are oriented around the orbit like spokes of a wheel. Van der Meulen proposed a classification in 1983 on an embryologic basis. The term dysplasia was used instead of cleft, since some of the malformations do not represent true clefts. Between 1997 to 1998, authors experienced 3 cases of median and paramedian facial cleft. One was No.2 facial cleft and the others were No.0-14 facial cleft with orbital hypertelorism. Their ages ranged from 1 to 5 years.
Classification ; Hypertelorism ; Incidence ; Live Birth ; Orbit ; Skull

Median cleft face syndrome is diagnosed by two or more of the following anomalies : ocular hypertelorism, cranium bifidum occultum, median cleft nose, median cleft lip and median cleft premaxilla. The most consistent and prominent ocular finding associated with this syndrome is hypertelorism. We experienced a case of median cleft face syndrome which had orbital hypertelorism, cranium bifidum occultum, bifid cleft nose, V-shaped frontal hairline, and polysyndactly. We report this case with a brief review of the associated literature.
Cleft Lip ; Encephalocele ; Hypertelorism ; Nose ; Orbit

A median cleft lip has been broadly defined as any congenital vertical cleft through the center of the upper lip. In the Tessier 0 cleft, the location of the median cleft of the upper lip has a spectrum of dysmorphic gradation. This varies from a simple central vermillion notch to a wide cleft accompanied by a bifid nose and hypertelorism. Despite its extreme variability, the median cleft is quite rare and has a reported incidence amongst cleft patients alone of 0.43 to 0.73%. We experienced two cases of incomplete median cleft lip without other craniofacial anomalies. One of them who had reverse V-shaped defect of upper vermilion and fibrous band in her oral mucosa, was corrected with orbicularis oris muscle union and Z-plasty. The other patient had triangular shaped upper lip and deficiency of vermilion. We reviewed the classifications of median cleft lip and devised new classification, so that it helps understanding of median cleft lip.
Classification* ; Cleft Lip* ; Humans ; Hypertelorism ; Incidence ; Lip ; Mouth Mucosa ; Nose

The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.
Ankylosis ; Humans ; Hyperostosis ; Hypertelorism ; Joint Diseases ; Mice ; Mutation

Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy in chromosomal study. We report on a 17-month-old male infant with Pallister-Killian syndrome. He was admitted in our hospital for investigation of developmental delay and myoclonic seizure. He was diagnosed with Killian syndrome by clinical feature and 12p isochromosome in chromosomal study. He had multiple anomalies such as frontal bossing, temporofrontal balding, hypertelorism, simian crease, and accessory nipple. He died at home at 25 months old.
Child, Preschool ; Fibroblasts ; Humans ; Hypertelorism ; Infant ; Isochromosomes ; Lymphocytes ; Male ; Nipples ; Seizures ; Tetrasomy