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At least 163 records · Page 9Linked to original sources
PubMed2003

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low-set cupped ears with sensorineural hearing loss, normal phallus, pectus excavatum, scoliosis, and short stature. One brother had choanal atresia and cardiac defects consisting of ventricular septal defect (VSD) and patent ductus arteriosus (PDA) which resolved spontaneously. Differential diagnosis between a number of clinical entities was considered, however, because ACC and the distinctive facial features were reminiscent of FG syndrome, DNA was analyzed for markers linked to the FGS1 locus at Xq13-q21. Notably, the brothers were concordant for markers spanning this presumed FG region, and in both we have identified adjacent alterations (-57delT and T-55A) in the Alpha 4 gene located within this interval. Alpha 4 is a regulatory subunit of the major cellular phosphatase, PP2A, that has recently been shown to interact with MID1, the product of the gene mutated in X-linked Opitz GBBB syndrome. The double nucleotide change identified in this family was not observed in 410 control chromosomes, suggesting that it may be a pathogenetic change. Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome.

Adaptor Proteins, Signal Transducing↗
PubMed2005

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. A few cases have been reported in other populations. Here, we report the results of a genome-wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by F8VWF and D12S397. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease-causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct.

Abnormalities, Multiple↗
PubMed2005

Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.

We report on the autopsy findings of a 37-year-old man with a complex karyotype (mos46,XY,del(18)(p11.1)[14]/46,XY, -13, del (18)(p11.1), +20[8]/47,XY,del(18)(p11.1), +20[8]). He was known to be blind, non-ambulatory, have severe mental retardation, and a seizure disorder. External physical findings at the time of autopsy included micrognathia, short stubby fingers, and rocker bottom feet. Left lobe dominance of the liver and mislocation of the ileocecal junction and appendix were noted on internal examination. The brain was small (700 g) and poorly developed. Microscopically it showed an absence of neurons in the olivary and dentate nuclei, absence of Purkinje cells in the cerebellum, severe depletion of internal granular cells in the cerebellum, and cerebellar dysplasia. Fat infiltration was noted in an unusual distribution in several organs including a pattern in the heart consistent with arrythmogenic right ventricular dysplasia (ARVD). Findings of this mosaic chromosomal karyotype have not been previously described. This report will discuss this individuals physical findings and their relation to similar monochromosomal aberrations.

Abnormalities, Multiple↗
PubMed2005

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

It is known that SHOX nullizygosity results in Langer mesomelic dysplasia (LMD) and SHOX haploinsufficiency leads to Leri-Weill dyschondrosteosis (LWDC). Here, we report on a microdeletion in the SHOX 3' region identified in a Japanese infant with LMD-compatible skeletal features and a 45,X[191]/46,X,r(X)(p22.3q24)[9] karyotype and in her mother with LWDC-compatible skeletal features and a normal 46,XX karyotype. Physical and auxological examinations revealed mesomelic appearance, ulnarly deviated hands, and borderline micrognathia in the infant, and relatively short forearms and lower legs in the mother. Radiological studies indicated mesomelia, markedly curved radii, hypoplastic ulnas and fibulas, and metaphyseal splaying in the infant, and borderline to mild curvature of the radii, decreased carpal angles, and high-normal triangularization index in the mother. Cytogenetic and molecular studies showed that the ring X chromosome of the infant was missing SHOX and of paternal origin, whereas the cytogenetically normal X chromosomes of the infant and one of the two X chromosomes of the mother, though they retained SHOX with normal coding sequences, had a microdeletion in the SHOX 3' region. The microdeletion started from a position approximately 200 kb from SHOX coding sequences, and spanned 240-350 kb in physical length involving DXYS233. The results, in conjunction with those reported by Flanagan et al. [2002], suggest that a cis-acting enhancer exists in the SHOX 3' region around DXYS233.

3' Flanking Region↗
PubMed2005

Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.

Abnormalities, Multiple↗
PubMed2005

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

We report on a pure duplication of the proximal chromosome 2q in a 6.5-year-old boy with V-shaped midline cleft palate and bifid uvula, posteriorly located tongue, and micrognathia (Pierre Robin sequence), celiac disease, failure to thrive, and developmental delay. Cytogenetic and FISH analysis indicated a duplication of chromosome 2q13-q22. In general, pure proximal duplication or triplication of 2q is rare. The clinical features and chromosomal breakpoints of the 10 previously reported patients varied, and no common phenotype or proximal duplication/triplication 2q syndrome could be defined to date. However, based on four previous patients with different orofacial clefts and our case, a locus for orofacial clefting may be located at proximal 2q. The duplication/triplication comprised chromosome 2q13 in all five affected individuals including our patient. Our patient and three previous cases (two with cleft palate only (CPO) and one with cleft lip/palate (CL/P)) showed a cytogenetic breakpoint at 2q13, which could support the presence of a critical dominant gene disrupted by a common breakpoint, however, the fifth case with CPO showed different breakpoints, advocating against the disruption of a critical dominant gene and supporting that the overexpression of a gene(s) on chromosome 2q13-q21 may cause cleft palate only (CPO) and Pierre Robin sequence. Hence, our findings support either the presence of one locus for orofacial clefting (CL/P, CPO, and Pierre Robin sequence) between markers D2S1897 (chromosome 2q12.2) and D2S2023 (chromosome 2q14.2), or alternatively the presence of a locus for CPO and Pierre Robin sequence on chromosome 2q13-q21.

Abnormalities, Multiple↗
PubMed2006

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

We report on a 24-week fetus with multiple organ anomalies secondary to biparental inheritance of an apparently balanced t(17;20) reciprocal translocation. The pregnancy was terminated following the discovery by ultrasound of an abnormal heart and micrognathia. At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. Given the endocardial fibroelastosis and cleft palate, Eastman-Bixler syndrome (Facio-cardio-renal) is a possible diagnosis. The parents were first cousins and each had an identical t(17;20)(q21.1;p11.21) translocation. The fetal karyotype was 46,XX,t(17;20)(q21.1;p11.21)mat,t(17;20)(q21.1;p11.21)pat. While there are a few reports of consanguineous families where both the mother and father had the same reciprocal translocation and offspring with unbalanced karyotypes, we were unable to find any reports of a fetus/child with double identical reciprocal translocations. We propose that although the fetus had an apparently balanced karyotype, inheriting only the translocated chromosomes led to the unmasking of a recessive syndrome. It seems most likely that a gene (or genes) was disrupted by the breaks but the parents might also be heterozygous carriers of a recessive gene mutation since the fetus must be homozygous by descent for many loci on both chromosomes 17 and 20 (as well as on other chromosomal segments). It was not possible to totally exclude segmental uniparental disomy as a cause of the anomalies as no recombinations were detected for chromosome 17. However, there is no evidence to suggest that chromosome 17 is imprinted and UPD 20 was excluded thus making an imprinting error unlikely.

Abnormalities, Multiple↗
PubMed1988

Reduced mandibular dimensions and asymmetry in juvenile rheumatoid arthritis. Pathogenetic factors.

The pathogenesis of reduced mandibular dimensions and asymmetry was studied in 103 patients with juvenile rheumatoid arthritis. Abnormalities of the temporomandibular joint were intimately related to mandibular growth disturbances. Unilateral joint abnormality resulted in jaw asymmetry and underdevelopment on the affected side. Duration of disease and of corticosteroid therapy, age at disease onset, and age when the data were recorded were correlated with the size of the mandible. Our findings did not support a hypothesis of cervical spine involvement as an etiologic factor of reduced mandibular size.

Arthritis, Juvenile↗
PubMed1988

Jaw deformity caused by juvenile rheumatoid arthritis and its correction.

An underdeveloped mandible and resulting micrognathia and malocclusion may occur in some children with juvenile rheumatoid arthritis. Combined orthodontic and surgical procedures can now greatly improve esthetics and function in such children. We describe corrective treatment and followup of 7 patients.

Adolescent↗
PubMedDate not supplied

Trisomy 20 mosaicism.

A further case of trisomy 20 mosaicism found at amniocentesis is presented. Pregnancy was terminated, the fetus showed facial dysmorphia and minor cardial and renal anomalies. 19 published reports of true trisomy 20 mosaicism at amniocentesis are reviewed. Five pregnancies resulted in obviously normal newborns. The significance of mostly minor anomalies found at autopsy of 7 fetuses remains unclear. With regard to genetic counselling the significance of trisomy 20 mosaicism is summarized as follows: (1) true trisomy 20 mosaicism in amniotic fluid cells reflects mosaicism of the fetus; (2) severe malformation is not a major feature of trisomy 20 mosaicism; (3) the risk of mental retardation is still undetermined, due to limited experience. However, there is no definite proof that the condition is harmful at all.

Adult↗
PubMed1993

Measurement of the fetal mandible--feasibility and construction of a centile chart.

The prenatal diagnosis of micrognathia is usually based on a subjective impression of the size of the jaw when examining the fetal profile. We have constructed a centile chart for mandibular length between 12 and 27 post-menstrual weeks in a cross-sectional study of 184 fetuses. The application of this chart in clinical practice may permit a more objective diagnosis of micrognathia in the prenatal period.

Anthropometry↗
PubMed1994

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11).

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.

Adult↗
PubMed2002

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.

Abnormalities, Multiple↗
PubMed2002

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.

We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.

Adult↗
PubMed2004

The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies.

OBJECTIVES: Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling. METHODS: Two cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism. RESULTS: The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences. CONCLUSIONS: An approach based on combined use of different imaging techniques was found useful in both cases.

Adult↗
PubMed2004

Internal mandibular distraction to relieve airway obstruction in infants and young children with micrognathia.

Micrognathia may cause upper airway obstruction requiring complex medical interventions and sometimes tracheostomy. The role of distraction techniques to lengthen the mandible is yet to be clarified. The aim of this paper is to present a series of five cases in which mandibular lengthening by osteotomy and internal distraction was used to relieve airway obstruction. Five patients whose ages ranged from 4-39 months (mean, 15 months) were managed at our center with internal distraction osteogenesis to relieve airway obstruction. Three patients had a tracheostomy, and two patients had refractory airway obstruction prior to distraction. Following osteotomy and insertion of internal distraction devices, the mandible was distracted a mean of 17 mm (range, 15-25 mm). The distraction devices were removed at the end of a consolidation period ranging from 3-10 weeks. Two of 3 patients with a tracheostomy were decannulated, while the third patient with tracheostomy is awaiting choanal atresia repair before being decannulated. The two patients who were not managed with a tracheostomy but who had persistent upper airway obstruction have not required further airway intervention after mandibular distraction. In conclusion, mandibular lengthening by distraction osteogenesis can relieve airway obstruction in infants and small children. This is a promising new technique that may avoid the need for tracheostomy in some infants with micrognathia, and facilitate early decannulation in those who have a tracheostomy.

Airway Obstruction↗