Oral-facial-digital Research Articles

Oral-facial-digital (OFD) syndrome with associated features

We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).

Classification of limb anomalies in oral-facial-digital syndromes

A classification of limb anomalies in oral-facial-digital (OFD) syndromes is offered to help differentiate between the various types of OFD syndromes. A clinical case is presented with clinical features consistent with both OFD syndrome type I (Papillon Leage-Psaume syndrome) and type VI (Váradi syndrome). The final diagnosis as a new mutation of type I syndrome was established after reviewing the radiological findings in the hands.

Oral‐facial‐digital syndrome type I in a newborn male

We report on a newborn male, born at term with clinical manifestations of oral-facial-digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X-linked dominant fashion with lethality in males. Therefore, liveborn males are exceptional. This liveborn male also had Dandy-Walker malformation and polycystic kidneys. From a general point of view, distinction between the 8 types of OFD syndromes described so far appears subtle and considerable overlap exists between them. In this regard, it should be noted that polycystic kidneys different from adult polycystic kidney disease both macroscopically and microscopically are a frequent manifestation of OFD I.

国腔顔面指し症候群の１症例

A patient with oral-facial-digital (OFD) syndrome is reported. The patient was a 5-year-old female who had a tumor of the tongue, fistula of the lower lip, and abnormal frenulum that were treated surgically. OFD is, rare hereditary disease that is classified as OFD I or II by the pattern of inheritance and the clinical features. Our patient was diagnosed as OFD I. In Japan, there have been few reports dealing with this syndrome.Most cases in Japan have the features of bifid tongue and/or tumor of the tongue, abnormal frenula of the lips, cleft alveolar cavities, coarse or friable hair, hypertelorism, and an abnormal nose as well as clinodactyly and/or syndactyly.

Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

A 2‐year‐old girl, who at birth exhibited lingual malformation, Polydactyly, and tachypnea and who subsequently developed severe psychomotor retardation, is described. The syndrome corresponds to the Mohr syndrome and is compared with the oral‐facial‐digital (OFD) syndrome from a clinical and genetic point of view.

Pilosebaceous Dysplasia in the Oral-Facial-Digital Syndrome

The clinical features of eight female patients with the oral-facial-digital (OFD) syndrome, including a description of the skin and its histological and pharmacological characteristics are described. The OFD syndrome is characterized in part by a cutaneous dyplasia which includes a marked diminution in sebaceous glands, some decrease in hair follicles, and early keratinous cyst formation, which may represent maldevelopment of the pilosebaceous unit.

Oral-facial-digital syndrome. A case with necropsy findings.

The oral-facial-digital (OFD) syndrome was first described by Papillon-Leage and Psaume in 1954.1,2Since then, about 80 cases have appeared in the literature, but so far very few necropsies have been reported and only one with abnormalities of the brain.3The purpose of this paper is to report a case of OFD syndrome and describe the findings at necropsy. Report of a Case The patient, a female, was the second born of healthy unrelated parents who were in their early 20's at the time of her birth. Two siblings are reported to be healthy. The only pertinent family history was that of the maternal grandmother who had a history of eight miscarriages of a total of 13 pregnancies, but further details of these were not known. The mother was exposed to German measles in the second month of pregnancy but did not develop symptoms. She received γ-globulin. The

Tooth anomalies in the oral-facial-digital syndrome.

AbstractThe relation of alveolar clefts to morphogenesis of teeth in the line of the cleft was explored. The oral‐facial‐digital (OFD) syndrome is a unique experiment of nature wherein the position of the cleft is posterior to where it occurs in the more common types of cleft. In the latter the cleft occurs anterior to the maxillary canine and affects the number and form of the lateral incisor. In the OFD syndrome the cleft occurs posterior to the canine with duplicate canines, sometimes “T”‐shaped, occurring on either side of the alveolar cleft. These findings suggest a common timespace relation between alveolar clefting and tooth‐bud formation, probably occurring in the sixth week of embryonic life.

Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome.

THROUGH the investigation of familial abnormalities, it is sometimes possible to demonstrate clear-cut modes of inheritance, thus defining further the mechanisms of human biology and aiding intelligent genetic counseling. In one such investigation a large family with an inherited congenital abnormality, the oralfacial-digital (OFD) syndrome, was described.1 The OFD syndrome is a multisystem condition in females, characterized by the occurrence of various clinical signs. These signs commonly include a typical pugnosed profile; pseudocleft upper lip; cleft tongue and tongue hamartomas; cleft or pseudocleft palate; multiple buccal frenula causing alveolar ridge clefts and malpositioning of teeth; short, stubby hands with webbing; extra digits of the feet; polycystic kidneys; and mental retardation.1-4 The several previous studies1,3-5relating mental retardation to the OFD syndrome have not included desirable controls. One method by which to control some of the effects of cultural and environmental factors is to compare affected and

Genetic and clinical heterogeneity in the oral-facial-digital syndromes

The association of oral, facial, and digital malformations has become known as the oral-facial-digital (OFD) syndrome. This syndrome is currently considered to be inherited as an X-linked dominant trait, manifested only in female subjects and lethal in themale. This paper documents the presence of OFD malformations in one girl and her two male siblings. It is concluded that this symptom complex represents at least two distinct genetic entities: OFD I, inherited as an X-linked or sex-limited autosomal dominant; and OFD II (Mohr syndrome), probably inherited as an autosomal recessive.

THE ORAL-FACIAL-DIGITAL SYNDROME: A MULTIPLE CONGENITAL CONDITION OF FEMALES WITH ASSOCIATED CHROMOSOMAL ABNORMALITIES

The oral-facial-digital (OFD) syndrome is a congenital condition found only in females and with variable anomalies of the oral, facial, and digital tissues. Defects of the oral region are fairly constant, while involvement of the face and digits may, or may not, be found. Radiographic and cephalometric analyses reveal syndrome-specific characteristics of the skull and digital bones. Alopecia, coarse skin, and minimal hypotelorism may be present. Central nervous system disorders with mental retardation were found in some of our cases. On the basis of this study, and previous reports, it can be tentatively concluded that between one-third and one-half of the patients are mentally retarded. Two OFD patients, a mother and her daughter, have an insertion in one No. 1 chromosome. It appears likely that the syndrome generally is caused by partial trisomy for a specific chromosome segment. The inserted extra piece will usually be undetectable in the microscope. A familial pattern is demonstrable in some of the cases with this condition. The OFD syndrome seems to be lethal for males. The nature of the anomaly points to the need for long-term multidisciplinary treatment and planning in the majority of cases.