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Results for “Micrognathism”

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At least 127 records · Page 7Linked to original sources
PubMed2000

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.

Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We identified 666 infants, born from 1983 through 1993, who had a non-syndromal limb defect plus at least one other major malformation (rate 12.9/100,000 population). We used observed/expected ratios and log-linear models to detect association patterns. We found that specific limb defects occurred with relatively distinct sets of malformations. Preaxial limb defects occurred more frequently with microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeleton defects; postaxial defects with hypospadias; transverse defects with craniofacial defects, micrognathia, ring constrictions, and muscular defects; intercalary defects with omphalocele; split hand/foot with encephalocele; and amelia with anorectal atresia, omphalocele, severe genitalia defects, unilateral kidney dysgenesis, gastroschisis, and ring constriction. Log-linear modeling identified higher order associations among some of these same malformations.

Cleft Palate↗
PubMed2000

Mandibular transformations in prepubertal patients following treatment for craniofacial microsomia: thin-plate spline analysis.

To analyze correction of mandibular deformity using an inverted L osteotomy and autogenous bone graft in patients exhibiting unilateral craniofacial microsomia (CFM), thin-plate spline analysis was undertaken. Preoperative, early postoperative, and approximately 3.5-year postoperative posteroanterior cephalographs of 15 children (age 10+/-3 years) with CFM were scanned, and eight homologous mandibular landmarks digitized. Average mandibular geometries, scaled to an equivalent size, were generated using Procrustes superimposition. Results indicated that the mean pre- and postoperative mandibular configurations differed statistically (P<0.05). Thin-plate spline analysis indicated that the total spline (Cartesian transformation grid) of the pre- to early postoperative configuration showed mandibular body elongation on the treated side and inferior symphyseal displacement. The affine component of the total spline revealed a clockwise rotation of the preoperative configuration, whereas the nonaffine component was responsible for ramus, body, and symphyseal displacements. The transformation grid for the early and late postoperative comparison showed bilateral ramus elongation. A superior symphyseal displacement contrasted with its earlier inferior displacement, the affine component had translocated the symphyseal landmarks towards the midline. The nonaffine component demonstrated bilateral ramus lengthening, and partial warps suggested that these elongations were slightly greater on the nontreated side. The affine component of the pre- and late postoperative comparison also demonstrated a clockwise rotation. The nonaffine component produced the bilateral ramus elongations-the nontreated side ramus lengthening slightly more than the treated side. It is concluded that an inverted L osteotomy improves mandibular morphology significantly in CFM patients and permits continued bilateral ramus growth.

Bone Transplantation↗
PubMed2001

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

Abnormalities, Multiple↗
PubMed1979

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.

Abnormalities, Multiple↗
PubMed1979

Ring chromosome 6 in a child with minimal abnormalities.

We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.

Body Height↗
PubMed1982

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.

Adult↗
PubMed1982

Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with G-banding were normal. It is suggested that this syndrome is a dominant trait, the mother being the initial mutant.

Abnormalities, Multiple↗
PubMed1982

Limb deficiency and splenogonadal fusion.

We report a 10-year-old boy with tetramelic limb deficiencies, splenogonadal fusion, and mild mandibular and oral abnormalities. This patient is quite typical of 14 reported cases with this combination of findings. This association must be nosologically closely related to the Hanhart syndrome and other syndromes of limb deficiency and orofacial abnormalities. Recent experience does not support the idea that limb reduction with splenogonadal fusion is an invariably lethal dominant disorder.

Abnormalities, Multiple↗
PubMed1985

Partial deletion of distal 17q.

A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.

Abnormalities, Multiple↗
PubMed1985

Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.

We describe a child with Wolf-Hirschhorn syndrome with the karyotype 45,XY,inv(9)(p11q13)pat,-4,-21,+der(4),t(4;21)(p15.3;q11.2)mat. This is the second case known to us of Wolf-Hirschhorn syndrome caused by 1:3 segregation of a parental rearrangement. This mode of segregation can be predicted in both cases by a pachytene-diagram model. It is uncertain whether or not the proximal 21q monosomy in this case has affected the phenotype.

Abnormalities, Multiple↗
PubMed1986

Robin sequence and oligodactyly in mother and son.

A combination of the Robin sequence with pre- and postaxial oligodactyly was observed in a mother and her son. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

Abnormalities, Multiple↗
PubMed1987

The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.

We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, a right-sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X-linked recessive and may overlap with the Smith-Lemli-Opitz syndrome.

Abnormalities, Multiple↗
PubMed1987

Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings.

We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed1987

Unilateral carpal bone deformity in mother and son.

We report on a mother and son with unilateral absence of most of the proximal carpal bones, dysplasia of the distal row of carpal bones, and deformity of the forearm. Although carpal bone dysplasia has been reported in several congenital or progressive disorders, unilateral involvement with lack of progression makes this a distinct entity.

Abnormalities, Multiple↗
PubMed1987

Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.

Abnormalities, Multiple↗
PubMed1987

Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect.

This paper illustrates a syndrome of distal limb deficiency and oral defects in two sibs, a moderately mentally retarded man and his mildly retarded sister. Both have microretrognathia, microstomia, normal tongue, and symmetric severe limb deficiencies. This seems to be a previously undescribed syndrome. The nosology of the different orofacial syndromes associated with distal limb deficiencies is discussed.

Abnormalities, Multiple↗