oro-facio-digital

In this report the authors describe a multimalformed female newborn with terminal deletion of the long arm of chromosome 5 (q35.1qter). The multiple congenital anomaly syndrome consisted of a combination of oral, facial and digital anomalies. The present observation indicates that cytogenetic studies are needed in all patients presenting developmental delay and oro-facio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.

Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects...

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In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 (OFD-I) and type 2 (OFD-II), it is important to establish a correct diagnosis in these patients. In this report two new patients with the OFD-I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact. She died at the age of four months and autopsy of the brain revealed abnormalities typical of the syndrome, which are discussed. The other patient (Case 2) has so far had normal mental development...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

There are at least four different types of Oro-facial-digital syndromes. The features of type II are bilateral polydactyly of hands, peculiar face with normal skin, hair, and intelligence. It is due to an autosomal recessive gene. We report a case of Oro-facio-digital syndrome in a four year old girl with a peculiar face and polydactyly of hand and feet, born from normal non consanguineous parents. Her mother was pregnant at the time of observation and came for an evaluation of the recurrence risk. The pregnancy was monitored by ultrasonography...

Two patients with oro-facio-digital syndrome type II (OFD-II, Mohr syndrome) with associated cerebellar atrophy are described. Three other cases of the Mohr syndrome with cerebellar abnormalities are cited from the literature. Cerebellar involvement seems to be a clinical feature of this syndrome. Unfortunately, there is a lack of CNS reports for many of the previously described patients. In all cases with this entity, careful neurological and radiological examinations of the cerebellum are recommended.

Six children with an oro-facio-digital syndrome (Papillon-Leage and Psaume) underwent pneumoencephalography. In 3 cases, the examination was normal. In 3 cases, severe abnormalities were discovered. These abnormalities included: agenesis of the corpus callosum (3/3); a markedly asymmetric skull with enormous porencephalic cavities (2/3); heterotopia of the grey matter (2/3). There were no differences in neurological state nor I.Q. between the children with cerebral malformations and those with a normal pneumo-encephalogram...