Cases reported "Hypertelorism"

Filter by keywords:



Filtering documents. Please wait...

1/76. Craniofacial correction of giant frontoethmoidal encephalomeningocele.

    The surgical treatment of a very large anterior encephalocele in an infant is presented. Because of the large size of the encephalocele, a combined transfacial-transcranial approach was used for correction of the associated intracranial, cranioorbitonasal bone, and facial skin deformities.
- - - - - - - - - -
ranking = 1
keywords = nasal
(Clic here for more details about this article)

2/76. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

    We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.
- - - - - - - - - -
ranking = 3.2424803706567
keywords = nose, nasal
(Clic here for more details about this article)

3/76. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.

    We report on a boy with congenital pure red blood cell aplasia [diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.
- - - - - - - - - -
ranking = 2.2424803706567
keywords = nose
(Clic here for more details about this article)

4/76. Frontonasal dysostosis in two successive generations.

    Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.
- - - - - - - - - -
ranking = 10.242480370657
keywords = nose, nasal
(Clic here for more details about this article)

5/76. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity.

    A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos. Basal encephalocele is a rare disease, and usually not detectable from the outside. In this case, initially the cause of an upper airway obstruction was considered to be posterior rhinostenosis, and posterior rhinoplasty with inferior nasal conchectomy was scheduled. However, in preoperative examination, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a bony defect in the sphenoidal bone and a cystic mass in communication with cerebrospinal fluid, herniating into the nasal cavity through the bony defect. The mass was diagnosed as a transsphenoidal encephalocele, the scheduled operation cancelled, and tracheostomy performed for airway management. The possibility of basal encephalocele should be considered in the case of upper airway obstruction with facial midline deformity.
- - - - - - - - - -
ranking = 4.2424803706567
keywords = nose, nasal
(Clic here for more details about this article)

6/76. Pena-shokeir type I syndrome with thymic and systemic lymphoid hyperplasia: report of an autopsy case.

    We report a case of Pena-Shokeir type I syndrome in a female neonate who died of respiratory failure shortly after the birth at 32 weeks of gestation. In general appearance, she had apparent ocural hypertelorism, a depressed tip of the nose, low-set malformed ears, and microglossia in the head. There were severe contractures at the ankle, hand, fingers, and toes, and moderate contractures at the hip, shoulder, knee, and elbow. An autopsy analysis showed severe pulmonary hypoplasia and group atrophy of the skeletal muscle tissues. In addition to these findings which are well known characteristics of the infant with this syndrome, the thymus was markedly hyperplastic and lymph nodes were systemically swollen, especially the mesenteric ones which were visible and measured 2-5 mm in diameter. Histologically, the lymph nodes showed massive paracortical hyperplasia without apparent follicular structures, although no atypical lymphocytes were observed in both the thymus and lymph nodes. Immunohistochemically, proliferating lymphocytes seemed to be immature CD4 /CD8 T cells, suggesting the insufficiency of T-cell negative selection in the thymus. This report is the first case of Pena-Shokeir type I syndrome with T-lymphocytic disorder.
- - - - - - - - - -
ranking = 2.2424803706567
keywords = nose
(Clic here for more details about this article)

7/76. Familial Del(18p) syndrome.

    We report on sibs and their mother, all with del(18p). The propositus, an 11-month-old, had developmental delay, round face, hypertelorism, large ears, broad nasal bridge, upturned nostrils, micrognathia, a high palate, redundant skin around the neck, micropenis, and cryptorchidism. The elder sister, a two and 7/12-year-old, had round face, hypertelorism, broad nasal bridge, narrow and high palate, redundant skin around the neck, short fingers, and hypoplastic genitalia. Their mother had microcephaly, hypertelorism, prominent columella, broad nasal bridge, wide mouth, high palate, malaligned teeth, and clinodactyly of the fifth fingers. Serial photographs of the mother showed that the characteristic round face in infancy changed to long face with age. The present report suggests that the mother with del(18p) may be fertile, and proper genetic counseling and long follow-up is necessary for the patient with del(18p) syndrome. copyright Wiley-Liss. Inc.
- - - - - - - - - -
ranking = 3
keywords = nasal
(Clic here for more details about this article)

8/76. A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.

    Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.
- - - - - - - - - -
ranking = 1
keywords = nasal
(Clic here for more details about this article)

9/76. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

    We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.
- - - - - - - - - -
ranking = 2.2424803706567
keywords = nose
(Clic here for more details about this article)

10/76. Craniofacial surgery for leaking encephalocele in a newborn baby.

    A newborn baby with a leaking frontoethmoidal encephalocele is reported. The 1-day-old baby was referred to our center with a swelling on the nose leaking CSF. The child was the third baby of a consanguinous marriage. The baby had a swelling over the nose, 8 cm in diameter. The center of the swelling looked unhealthy, with a small raw area seeping CSF. CT scan showed a swelling containing tissue isodense with normal brain. The bone window and the 3D CT revealed a basal bone defect in front of the crista galii and an outer bone defect at the frontonasal junction over the nasion. The baby was operated on the 5th day after birth. One-stage repair of the encephalocele was performed, along with correction of hypertelorism and bone grafting over the forehead. The baby withstood the surgery well and was discharged from the hospital on the 10th postoperative day.
- - - - - - - - - -
ranking = 5.4849607413133
keywords = nose, nasal
(Clic here for more details about this article)
| Next ->


Leave a message about 'Hypertelorism'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.