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Results for “Micrognathism”

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At least 109 records · Page 6Linked to original sources
PubMed1974

Trisomy 8 mosaicism.

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Abnormalities, Multiple↗
PubMed1975

Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly.

A girl had cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, and abnormal dermal patterns at birth. She was born after a pregnancy complicated by exposure to multiple medications. This combination of malformations may represent a distinct entity unrelated to the medication or may be a complication of the intrauterine drug exposure.

Abnormalities, Drug-Induced↗
PubMed1975

Further identification of a D/E translocation.

An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined.

Abnormalities, Multiple↗
PubMed1978

The Coffin-Siris syndrome.

We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported.

Abnormalities, Multiple↗
PubMed1981

Ring 4 chromosome with terminal p and q deletions.

A ring 4 chromosome was found in a boy with low birth weight, microcephaly, micrognathia, rounded broad nose, malformed ears, cleft soft palate, and retardation in growth and development. The ring 4 is formed by union of the ends after breakage and loss of the terminal parts of the short (p) arm and the long (q) arm. G-banded chromosome studies showed our patient to have a union at p16q35. Clinical findings in our patient were compared with those in others with the union at p16q35, p15q35, and p16q33. The patients with p15q35 had a deletion of more p-arm genetic material than those with the p16q35 union, and the patient with p16q33 had a greater loss of q-arm material. The loss of only a small part of the p16 band is associated with low birth weight, microcephaly, and retardation in growth and development.

Abnormalities, Multiple↗
PubMed1984

Continuous positive airway pressure for long-term treatment of sleep apnea.

Severe obstructive sleep apnea in a child with cleft palate and micrognathia developed after soft-palate repair. Continuous positive airway pressure applied to the nose during sleep corrected the abnormalities of sleep and breathing. Long-term treatment produced a remission of all symptoms. Proper technique was important. Continuous positive airway pressure was effective in treating obstructive sleep apnea in this child, and long-term treatment was implemented in the home.

Adolescent↗
PubMed1996

Cerebro-costo-mandibular syndrome.

We describe two boys with the cerebro-costo-mandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ribs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterior rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports describe horizontal and two describe vertical transmission of CCMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance. Inter- and intrafamilial expression is variable. Careful family studies are necessary before genetic counseling is given.

Flail Chest↗
PubMed1997

Tetra-amelia and splenogonadal fusion in Roberts syndrome.

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome.

Abnormalities, Multiple↗
PubMed1998

Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype.

Fibrochondrogenesis is a very rare form of lethal short-limb dwarfism, with 8 cases described since it was first reported in 1978. It is becoming clear that this condition has certain radiological and histological characteristics that distinguish it from other skeletal dysplasias. We herein present a further case of fibrochondrogenesis diagnosed in a fetus of 17 weeks, which is the youngest patient reported so far. In addition, the fetus showed severe micrognathia and a bifid tongue. These are not previously described manifestations, which extend the phenotype of this rare condition.

Abnormalities, Multiple↗
PubMed1999

Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. Fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both.

Abnormalities, Multiple↗
PubMed2000

Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia: a newly defined syndrome.

We report on a 6-year-old boy with a previously undefined syndrome of clavicular hypoplasia, frontonasal malformation, zygomatic arch hypoplasia, micrognathia, and normal intelligence. His condition differs from similar syndromes on the basis of unique facial findings such as microcornea, stellate irises, and a midline maxillary cleft. We present his case, a review of the literature, and propose the acronym CHZAM, for clavicular hypoplasia, zygomatic arch, and micrognathia, to represent this syndrome.

Abnormalities, Multiple↗
PubMed1998

Advantage of three-dimensional models in intraoral callus distraction.

Distraction osteogenesis has become an important method of reconstructing hypoplastic facial bones. Intraoral callus distraction is a great aesthetic improvement, because no visible scars are caused. Precise preoperative planning is necessary, however, because the direction of distraction cannot be influenced postoperatively. Nine three-dimensional (3-D) models were used in three intraoral distraction cases: two patients suffered from unilateral hemifacial microsomia and one from micrognathia after bilateral ankylosis caused by multifocal osteomyelitis in childhood. In each case, models of the head were produced and the distraction was simulated preoperatively. The amount of distraction was 18 mm in the two hemifacial microsomia patients and 18 and 14 mm in the ankylosis case. Extension of distraction in the ankylosis patient was shorter on one side in order to achieve a correct midline position. A slight overcorrection of 3-5 mm was allowed to cover relapse and unpredictable future growth deficiency. Three-dimensional models can supply important information when employed in intraoral callus distraction. They allow anticipation of pitfalls and help to achieve a foreseeable result. Further advantages may be expected with complete 3-D enoral distraction in the future.

Child↗