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PubMed1987

Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly).

Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten patients with the syndrome. Complete or partial agenesis of the corpus callosum was found in six patients, septal defects in three, and arhinencephaly and ammonic hypoplasia in one. Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in Apert syndrome, but also in other acallosal patients.

Acrocephalosyndactylia↗
PubMed2006

Defending eponyms.

Explore the source record for details and available documents.

Acrocephalosyndactylia↗
PubMed2004

Tracheal anomalies in Pfeiffer syndrome.

OBJECTIVE: To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome. DESIGN: Retrospective case series. SETTING: Academic tertiary care pediatric hospital. PARTICIPANTS: Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study. MAIN OUTCOME MEASURES: Presence of tracheal anomalies, need for tracheotomy, and length of life. RESULTS: The 6 severely affected patients had mutations in genes that code for fibroblast growth factor receptor 2 (S351C [3 patients]; C342S [2 patients]; and W290C [1 patient]). Five of these patients were diagnosed during bronchoscopy or tracheotomy as having a congenital tracheal cartilaginous sleeve. In 1 patient, supportive care was withdrawn at 2 weeks of life, and the patient died. The remaining 5 patients required tracheotomy because of severe upper airway obstruction. Three of these patients died (at ages 9 months and 7 and 15 years). Two are still alive at ages 23 and 18 months. CONCLUSIONS: Patients with Pfeiffer syndrome manifest significant airway pathologic conditions. Upper airway obstruction is related to midface hypoplasia and secondary nasal obstruction. Tracheal anomalies have been infrequently reported.

Acrocephalosyndactylia↗
PubMed1982

Hearing and otopathology in Apert syndrome.

Otologic and audiologic records on patients wit phenotypic characteristics of Apert syndrome were reviewed. Eustachian tube function was evaluated in five patients. The otologic findings indicate that patients with Apert syndrome have serous otitis media and its sequelae develop during infancy, with persistence into adulthood. This situation is analogous to cleft palate and brings to light another form of probable congenital Eustachian tube dysfunction. Stapedial footplate fixation was noted in one patient, and a dehiscent jugular bulb was seen in two others. The middle ear disease contributes to auditory sensory deprivation in the form of a persistent conductive hearing loss.

Acoustic Impedance Tests↗
PubMed1979

Body image and the process of reconstructive surgery.

Newer craniofacial operative techniques produce rapid changes in objective appearance and permit the study of body-image change. In 21 patients with either Crouzon's disease or Alpert's syndrome, a four-factor model of body-image development was applied that emphasizes cognitive growth, perception of body stimuli, stimuli from the environment in the form of comparison, and the response from others. Before a child is of school age, he has substantially defined his body image, therefore corrective surgery must be considered earlier. Although surgical intervention may produce significant objective physical change, there is not a correspondingly rapid change in body image. Four phases in the modification of body image are (1) the decision to undergo surgery, (2) the operative experience, (3) the immediate postoperative period, and (4) the reintegration stage. Recognition of this phasic process will help integrate care of these patients.

Acrocephalosyndactylia↗
PubMed1993

An updated pediatric perspective on the Apert syndrome.

This review of the Apert syndrome, based on our research experience with 136 cases, provides a clinically relevant pediatric perspective. The brain is megalencephalic, resulting in a disproportionately high cranium and a mean birth length and weight above the 50th percentile. The growth pattern in childhood consists of a slowing of linear growth so that most values fall between the 5th and 50th percentiles. From adolescence to adulthood, slowing becomes more pronounced. Central nervous system abnormalities may occur in some cases, including malformations of the corpus callosum and limbic structures, gyral abnormalities, hypoplastic white matter, and heterotopic gray matter. Distortion ventriculomegaly is found because of the large brain in a misshapen skull. Progressive hydrocephalus is uncommon. Intelligence in patients with the Apert syndrome varies from normality to mental deficiency. Early release of the coronal suture and advancement and reshaping of the frontal bone reduce further dysmorphic and unwanted growth changes in the skull, but probably do not affect mentation. Associated cardiovascular and genitourinary anomalies occur in 10% and 9.6% of cases, respectively. Other important findings reviewed include upper- and lower-airway compromise, calvarial development, cervical vertebral anomalies, limb defects, ocular and otologic manifestations, and dermatologic characteristics.

Acrocephalosyndactylia↗
PubMed1993

Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.

The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.

Acrocephalosyndactylia↗
PubMed1996

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

The acrocephalosyndactyly syndromes (ACS) are a group of clinically similar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the fingers and the toes in an autosomal dominant manner. The anomalies seen in this kindred comprise a syndrome distinct from other craniosynostosis syndromes. For this novel syndrome, we propose the name craniosynostosis, Philadelphia type.

Acrocephalosyndactylia↗
PubMed1996

Suture formation, premature sutural fusion, and suture default zones in Apert syndrome.

On the basis of our studies, we postulate that suture formation in Apert syndrome is related to the relative maturity of abutting calvarial bones. The fused coronal suture, a consistent manifestation at birth, develops first because the ossification centers of the frontal and parietal bones are in intimate contact early during intrauterine life. Calvarial immaturity and the megalencephalic brain characteristic of the Apert syndrome appear to work in concert to produce a widely patent midline calvarial defect extending from the glabella to the posterior fontanelle. Because sagittal growth in the coronal sutures cannot take place, the megalencephalic brain grows upward and laterally, and bulges forward through the midline defect. The defect fills in by coalescence of bony islands without proper suture formation because the gap to be bridged is so great that the time window for developing sutural interdigitations may have closed. Other sutures, such as the lambdoid, squamosal, and sphenotemporal, develop with normal interdigitations because abutting bone margins are in close enough proximity to permit suture formation.

Acrocephalosyndactylia↗