1/33. Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia.The authors report a female with syntelencephaly associated with a connected transhemispheric cleft of focal cortical dysplasia. Syntelencephaly is a rare anomaly characterized by fusion of the hemispheres in the posterior frontal and parietal regions and is considered a new variant of holoprosencephaly. Cranial magnetic resonance imaging of the patient revealed syntelencephaly associated with bilateral fused clefts of focal cortical dysplasia without the pial-ependymal seam, which was regarded as an incomplete type of schizencephaly. The underlying mechanism is discussed.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
2/33. Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.- - - - - - - - - - ranking = 1.5441234348683keywords = cleft, palate (Clic here for more details about this article) |
3/33. A case of false median cleft of upper lip with IV-A holoprosencephaly that underwent cheiloplasty at 2.5 years of age.holoprosencephaly results from the incomplete development of midline structures within the cerebrum and encompasses a series of abnormalities of mid-facial development. Here, we report a case of male holoprosencephaly associated with false median cleft of upper lip. This patient belonged clinically to the DeMyer's group IV holoprosencephaly, semilobar type. An infant with this type of holoprosencephaly has been thought to die generally within 1 to 2 years after birth and to rarely benefit from an operation. In this case, the patient had cheiloplasty at the age of 2.5 years at the request of his parents and he lives currently, being 3 years and 2 months old.- - - - - - - - - - ranking = 0.83333333333333keywords = cleft (Clic here for more details about this article) |
4/33. prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism.- - - - - - - - - - ranking = 0.16666666666667keywords = cleft (Clic here for more details about this article) |
5/33. airway obstruction due to a rudimentary premaxilla in holoprosencephaly.Objective: We present two infants with holoprosencephaly and clefts of the primary palate, who developed nasal airway obstruction due to a previously undocumented cause: a ball-valve-like action of a rudimentary premaxilla, which was extremely mobile on a soft tissue stalk. In such patients, the importance of intranasal examination to identify a rudimentary premaxilla, in order to preserve it, and if necessary, surgically stabilize it, is illustrated.- - - - - - - - - - ranking = 0.22957612803361keywords = cleft, palate (Clic here for more details about this article) |
6/33. Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.- - - - - - - - - - ranking = 0.22957612803361keywords = cleft, palate (Clic here for more details about this article) |
7/33. Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report.We report a child with diabetes insipidus and hypodipsia associated with holoprosencephaly. A two-year-old girl with the history of several admittances to hospital during and after the newborn period with hypernatremic dehydration, acute renal failure and convulsions is presented. The patient had hypodipsia, hypernatremia, microcephaly, failure to thrive, and unilateral cleft lip and palate. magnetic resonance imaging revealed lobar type holoprosencephaly. Increased plasma osmolality and decreased urinary osmolality were detected. Her urine ADH level was 10 ng/day. plasma osmolality levels returned to normal after hydration and administration of a vasopressin analogue. These findings suggest that in children with hypernatremia-hypodipsia syndrome, the possibility of cerebral malformations should always be kept in mind.- - - - - - - - - - ranking = 0.22957612803361keywords = cleft, palate (Clic here for more details about this article) |
8/33. prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations.The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable facial dysmorphisms and identical cytogenetic abnormality-a derivative (7) t(1;7) (q32;q32) inherited from the father. The proband 1 showed a small mouth, a single median eye and a proboscis above the eye, while the proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both fetuses also had alobar holoprosencephaly. haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in the two fetuses with a deletion of distal 7q (7q32 --> qter).- - - - - - - - - - ranking = 0.60444044732311keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
9/33. Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria.An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.- - - - - - - - - - ranking = 0.43777378065645keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
10/33. prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion.OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of concomitant trisomy 18p (18p11.2-->pter) and distal 21q22.3 deletion. CASE AND methods: A 29-year-old woman, gravida 2 para 1, underwent amniocentesis at 17 weeks' gestation because she was a carrier of a balanced reciprocal translocation, 46,XX,t(18;21)(p11.2;q22.3). cytogenetic analysis of the cultured amniocytes revealed a karyotype of 46,XX,der(21)t(18;21)(p11.2;q22.3). The fetus had a derivative chromosome 21 with an extra short arm of chromosome 18 attached to the terminal region of the long arm of chromosome 21. Level II sonograms did not find prominent structural anomalies. The pregnancy was terminated subsequently. At autopsy, the proband displayed a mild phenotype of hypertelorism, a small mouth, micrognathia, a narrowly arched palate, low-set ears, and clinodactyly. The brain and other organs were unremarkable. Genetic marker analysis showed a distal deletion at 21q22.3 and a breakpoint between D21S53 (present) and D21S212 (absent), centromeric to the known holoprosencephaly (HPE) minimal critical region D21S113-21qter. CONCLUSION: Genetic marker analysis helps in delineating the region of deletion in prenatally detected unbalanced cryptic translocation. Fetuses with concomitant trisomy 18p and distal 21q22.3 deletion may manifest inapparent phenotypic abnormalities in utero. haploinsufficiency of the HPE critical region at 21q22.3 may not cause an HPE phenotype.- - - - - - - - - - ranking = 0.062909461366939keywords = palate (Clic here for more details about this article) |
| | Next -> |