PubMed Health⌕ Search

Biomedical subjects

A E Poole

Publications and source records attributed to A E Poole.

At least 19 recordsLinked to original sources
PubMed2000

Prenatal diagnosis of total arhinia.

Complete or total arhinia, in which there is absence of the soft tissue of the nose, is extremely rare. The embryological origin of the defect is thought to be maldevelopment of the paired nasal placodes. Available neonatal case descriptions have reported the frequent coexistence of other facial anomalies. This report is the first to describe the antenatal diagnosis of total arhinia confirmed after delivery. Sonographic views of the fetal profile, showing an absence of the nose led to consideration of the diagnosis.

Adult↗
PubMed1993

The double-reversing Z-plasty in primary palatoplasty: operative experience and early results.

The double-reversing Z-plasty of Furlow for closure of the soft palate was used in 34 children with various types of cleft palate. Mean age at repair was 12.8 months. Intraoperative experience was favorable, with acceptable operating time and blood loss. Length of hospitalization averaged 1.9 days. Postoperatively, two children experienced temporary stridor, which resolved within 24 to 48 hours. One child had dehiscence of the hard palate (Von Lagenbeck repair) 4 weeks postoperatively, and three children developed small oronasal fistulae. Early speech evaluation demonstrated adequate soft palate mobility in 33 of 34 patients, with observable velopharyngeal function. Twelve children had mild velar compromise, with eight exhibiting slight nasal air escape.

Child, Preschool↗
PubMed1991

Structural abnormalities of the craniofacial complex and congenital malformations.

This article was meant to be a very cursory survey of the multiple defects that abnormal development can produce in all areas of the craniofacial complex. Careful examination for these abnormalities should lead the clinician to earlier referral of patients for additional examination by a genetics team. This often enables more focused care for the individual and better counseling concerning future pregnancies. Aase points out that "funny looking face" or "syndromic facies" is no longer helpful. Accurate assessment of the face with measurement leads to better diagnosis and ultimately better patient care. All children with facial defects deserve early intervention by a multidisciplined craniofacial team including geneticists, surgeons, dentists, speech pathologists, and other specialists. Part of the process of early referral to this team involves early detection and recognition in the neonatal period. It is hoped that this article stimulates the pediatrician to be aware of these abnormalities, recognize their importance, and seek additional help for patients, no matter what their age.

Abnormalities, Multiple↗
PubMed1990

Cephalometric analysis of the Prader-Willi syndrome.

The Prader-Willi syndrome (PWS) is characterized by short stature, mild mental retardation, and a characteristic face. Approximately 75% of all patients have a del (15q). Cephalometric roentgenograms of 20 PWS patients of both sexes (12 adults, 8 children, age 4.5-50.0 years) were analyzed to determine if the facial appearance is reflected in changes in the bony architecture, a characteristic which might be useful in diagnosis and/or dental treatment of these individuals. PWS subjects were compared with chronologic age and sex-matched control individuals derived from the Denver Growth study using 52 point computer analyzed lateral head-plate tracings performed by the same individual (RS). The mean Z-score differences for mandibular and maxillary total length, ramus height, mandibular corpus length, posterior facial height, and mid-facial height were all significantly smaller in greater than 65% of the PWS subjects; this was more evident in the PWS children. The Z-score difference for posterior cranial base was very large in most PWS adults and children whereas lower facial height was small or normal in all subjects. No statistical difference in mean Z-score measurements was found for all these measures in PWS subjects with or without the 15q chromosome deletion. The overall small bony structures contrast with the relatively large soft tissue draping seen especially in obese adults. The data suggest that a characteristic bony model might be created for PWS which could be of use in diagnosis and in the treatment of PWS patients by their orthodontist.

Adolescent↗
PubMed1988

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗