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Hypertelorism
Growth Abnormal long Distance
Presentation
- To report a rare case of nasal chondroma presenting as hypertelorism. We report a case of a 16-year-old boy with a large calcified mass arising from the posterior nasal cavity presenting as hypertelorism.[ncbi.nlm.nih.gov]
- We present a case of a 5-year-old boy who presented with a 15 4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose.[ncbi.nlm.nih.gov]
- Abstract We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures.[ncbi.nlm.nih.gov]
- Nine cases from the Center for Voice Disorders are presented. With arytenoid hypertelorism caused by cricoid chondrosarcoma, usually the posterior larynx is open.[ncbi.nlm.nih.gov]
- Abstract We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria.[ncbi.nlm.nih.gov]
Entire Body System
Fishing
- To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened.[ncbi.nlm.nih.gov]
- Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter.[ncbi.nlm.nih.gov]
Cerebral Palsy
- In addition to the typical morphological findings, signs of cerebral palsy related to dysmaturity and perinatal adaptation problems were present in two of them.[ncbi.nlm.nih.gov]
Musculoskeletal
Sloping Shoulders
- The second most common cause was craniofrontonasal dysplasia (n 18), a genetic syndrome comprising coronal synostosis, frontonasal anomalies, "frizzy" hair, narrow/sloping shoulder girdle deformity, and longitudinal ridging of nails in association with[ncbi.nlm.nih.gov]
Ears
Normal Hearing
- Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter.[ncbi.nlm.nih.gov]
Face, Head & Neck
Waardenburg Syndrome
- Syndrome and Cri-du-Chat Syndrome.[eyewiki.aao.org]
- Hypertelorism can also be seen in Apert syndrome, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf-Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along[facecorrection.com]
- Hypertelorism can also be seen in Apert syndrome, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon syndrome, Wolf–Hirschhorn syndrome, Andersen–Tawil syndrome, Waardenburg syndrome and cri du chat syndrome, along[en.wikipedia.org]
- Not that unusual perhaps but if those blue eyes are accompanied by a tuft of white hair above the forehead I think immediately of Waardenburg syndrome, a condition that can cause hearing loss.[express.co.uk]
Neurologic
Meningism
- No seizure, cerebral edema, meningitis, blindness, and ptosis occurred in this series. The average age was 13 years and two months. Operating time averaged 6 hours and 50 minutes.[ncbi.nlm.nih.gov]
- […] and their immediate repair if opened, preservation or perfect repair of dura, changing of instruments if passing through the facial cavities, and perioperative antibiotic therapy were preventive measures that helped to avoid infection, osteitis, and meningitis[plasticsurgerykey.com]
Workup
EEG
Epileptiform Activity
- EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. CONCLUSION: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH.[ncbi.nlm.nih.gov]
Treatment
- The treatment can be orbital mobilization, or if the malformation goes along with occlusal alterations, the indicated treatment is a facial bipartition with hemifacial rotation.The intention of the present study was to describe a surgical planning technique[ncbi.nlm.nih.gov]
- The standard treatment for cranium bifidum occultum is observation.[ncbi.nlm.nih.gov]
- Because these tumors behave so benignly, the authors recommend conservative surgery (unilateral hemicricoidectomy) as the diagnostic/treatment modality of choice.[ncbi.nlm.nih.gov]
- The correction of these orbital dysmorphisms are undertaken in the same setting as the surgical treatment of MEC.[ncbi.nlm.nih.gov]
- As with almost every kind of surgery, the main complications in both treatments of hypertelorism include excessive bleeding, risk of infection and CSF leaks and dural fistulas.[en.wikipedia.org]
Prognosis
- However, a nasal bone graft has a good prognosis, even when performed in children.[ncbi.nlm.nih.gov]
- Prophylaxis of pathology and prognosis for patients Hypertelorism is, rather, an aesthetic defect. Dangers are syndromes and diseases that are accompanied by this violation. Therefore, the defect itself is not a threat to the child's life.[acikgunluk.net]
- The prognosis, which depends on the associated anomalies, is usually very poor.[sonoworld.com]
Etiology
- We studied 24 individuals, 12 of them had an isolated form (Group I) and the others, MCA with unknown etiology (Group II). There was no significative difference between Group I and II and the results are presented in set.[ncbi.nlm.nih.gov]
- Abstract In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated.[ncbi.nlm.nih.gov]
- An analysis of the etiology, surgical method, and complication has been undertaken. RESULTS: The main cause of orbital hypertelorism in our center was craniofacial cleft.[ncbi.nlm.nih.gov]
- Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987.[ncbi.nlm.nih.gov]
- It is considered a complex disorder with several genes involved and the molecular etiology is just beginning to be revealed.[ncbi.nlm.nih.gov]
Epidemiology
- Summary Epidemiology It has been described in three families.[orpha.net]
- Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH.[malattierare.toscana.it]
Sex distribution
Age distribution
Prevention
- Infections and leaks can be prevented by giving perioperative antibiotics and identifying and closing of any dural tears. The risk of significant bleeding can be prevented by meticulous technique and blood loss is compensated by transfusions.[en.wikipedia.org]
- The inverted U-shaped osteotomy technique may be an effective and safe technique for the stability of the corrected orbital framework and the prevention of recurrence in severe cases of orbital hypertelorism.[ncbi.nlm.nih.gov]
- The paraorbital soft-tissue-expansion technique may be an effective technique for the stability of the corrected orbital framework and the prevention of reoccurrence in severe cases of orbital hypertelorism.[ncbi.nlm.nih.gov]
- The timely confirmation of diagnosis and proper management prevented further visual loss in both patients.[ncbi.nlm.nih.gov]
- With regard to prevention, then, unfortunately, there is no specific means of preventing the described ptology.[acikgunluk.net]