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PubMedDate not supplied

Oral findings in Michelin Tire syndrome: report of case.

Michelin Tire syndrome is a genetic disease caused by smooth muscle hematoma formation, a condition which causes symmetrical, ringed creases around all extremities and the torso. Oral findings in a child with this syndrome were unusual and are presented in this case report.

Abnormalities, Multiple↗
PubMed1997

Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

The oral-facial-digital syndromes (OFDS) have in common minor facial and oral anomalies (including tongue lobulation and/ or hamartomas, accessory frenula, and alveolar anomalies) and variable digital defects such as polydactyly. The classification based on the presence of additional findings [Toriello, 1988, 1993] is not perfect, as many reported examples of a particular OFDS have some other condition. Here we describe six children, all diagnosed as having OFDS IV (OFDS with tibial defects), whose manifestations illustrate the apparent genetic heterogeneity.

Abnormalities, Multiple↗
PubMed1992

Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.

We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.

Abnormalities, Multiple↗
PubMed1977

Radiographic observations of pyknodysostosis. Report of a case.

A case of pyknodysostosis in a 32-year-old woman has been reported. The patient presented typical skeletal changes, separated cranial sutures, open fontanelles, partial aplasia of the terminal phalanges of the fingers and toes, and brachyphalanges. The oral findings included lesions resembling periapical cementoma, hypoplasia of the maxilla and mandible, crowding of teeth, and a median raphe.

Abnormalities, Multiple↗
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↗
PubMed2001

The placenta in multiple pregnancy: outstanding issues.

The present paper reviews the placental development in multiple gestations and highlights the twin-to-twin transfusion syndrome, its recognition and possible therapy, and some of the consequences of fetal death of one twin. It presents data on discordance for structural anomalies in monozygotic twins. These aspects are discussed with respect to their possible pathogenetic origins.

Anencephaly↗
PubMed1986

Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns.

A review of the autopsy records of the Department of Pathology of Nagasaki University and the Department of Geneticopathology of Hiroshima University from 1944 through 1982 revealed that during this period there were 11,050 cases of fetuses and newborns, including 432 cases with craniofacial and oral malformations and 22 cases with amniogenous malformations. Among the cranial malformations, there were 202 (46.8%) anencephaly cases, 38 (8.8%) holoprosencephaly, 28 (6.48%) hydrocephaly, 27 (6.25%) meningoencephalocele, and 13 other cranial malformations (seven microcephaly and two each of macrocephaly, dolichocephaly, and iniencephaly). Among the oral malformations, there were 25 (5.78%) cleft lip cases, 23 (5.32%) cleft palate, and 76 (17.6%) cleft lip and palate. Among the facial malformations, there were 12 (2.78%) anomicrophthalmia cases, 37 (8.56%) ear malformations, 15 (3.47%) micrognathia, and 8 (1.85%) nose malformations. One cranial malformation was found that was complicated with anencephaly and holoprosencephaly. Of 307 cranial malformations, 38 (12.4%) were complicated with oral malformations and 4 (4.6%) with facial malformations. Among the 124 cases of oral malformations, 38 (30.6%) were complicated with cranial malformations. The complicating cranial malformations were anencephaly in 16 cases, holoprosencephaly in seven, hydrocephaly in six, meningoencephalocele in seven, other cranial malformations in two, and with facial malformations in 19 cases. Among the 72 cases of facial malformations, 14 were complicated with cranial malformations and 19 with oral malformations. Four cases showed three or more cranial, facial, and/or oral malformations at the same time. Recently, experimental embryological studies have shown that the neural crest cell-derived mesectoderm participates largely in the morphogenesis of the face and the cardiovascular system. It may be said that neural crest cells are deeply involved in the teratogenesis.

Autopsy↗