[Dysmorphic features which imply neurological alterations. Guidelines for action]. / Rasgos dismórficos que implican alteración neurológica. Pautas de actuación.

INTRODUCTION: In a patient with dysmorphic features correct diagnosis is essential to establish the prognosis, including therapeutic possibilities, prevention of complications, expectations of psychomotor development and genetic and family planning counselling. For this, craniofacial anomalies are essential in the diagnosis of genetic syndromes. OBJECTIVE: The aim of this study is to describe a methodology for clinical diagnosis, applicable in an outpatient clinic, which includes complementary studies and genetic tests. It is impossible to remember all the information on over 2500 well defined syndromes. Computer tests such as OMIN, LDD and POSSUM are essential to recognize these syndromes.

Craniometadiaphyseal dysplasia, wormian bone type.

We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.

Patients with geleophysic dysplasia are not always geleophysic.

We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty degeneration of the liver. In both, the facial appearance was different and neither had short stature nor progressive cardiac valvular disease. These clinical findings, consistent with a mild form of GD, support the notion that this disorder may have a broader spectrum than initially suspected.

[Rothmund-Thomson syndrome and osteosarcoma]. / Syndrome de Rothmund-Thomson et ostéosarcome.

BACKGROUND: The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features including osteogenic sarcoma. CASE REPORT: A girl developed the classical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from painful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal portion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions was negative. The patient was given chemotherapy and the tumor was resected 45 days later followed by postoperative chemotherapy. CONCLUSION: About 12 similar cases of osteosarcoma have been reported in patients with the Rothmund-Thomson syndrome. A review of literature allows to recognize some peculiar features of such association.

Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.

We report on a 3-1/2-year-old Spanish girl with the Neuhäuser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.

[Camptomelic dysplasia associated with true hermaphroditism]. / Displasia campomélica asociada a hermafroditismo vero.

Authors present a new case of campomelic dysplasia associated to true hermaphroditism. Clinical and radiological findings are described. Ethiopatogenical factors are widely discussed, and special correlation between campomelic dysplasia and sexual reverse, is noted, according to new concepts on H-Y antigen. Differential diagnosis with neonatal chondrodystrophies associated with respiratory distress and congenital incurved extremities are also reviewed.

[Interstitial deletion of the long arms of chromosome 13]. / Un caso de delección intersticial del brazo largo del cromosoma 13.

We present a case of a child with important phenotypic abnormalities (retinoblastoma, hypoplasia of the thumbs and genital), as well as craneofacial and evident psychomotor retardation. The chromosomal study showed a interstitial delection of the long arms of a chromosome from D group. We try to correlate karyotypes and phenotype, telling about difficulties that this relation means insisting about the importance of knowing more cases of chromosome 13 delection. We also think that subbands analysis represents an important factor in this correlation.

[Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)]. / Delección del brazo largo del cromosoma 1: 46,XY, del (1) (q42).

A case of long-arm deletion of chromosome No. 1: 46,XY, del (1) (q42) is reported. From the revised bibliography only two cases are comparable cytogenetically, not so phenotypically. The usefulness of the recent banding techniques in the precise diagnosis of small structural anomalies of the chromosome is outlined and the difficulty in establishing the relationship between chromosomal alteration and phenotypical characters are commented.

[Congenital type I fiber hypotrophy myopathy (author's transl)]. / Miopatías congénitas con hipotrofia de fibras tipo I.

Five cases with type I fiber hypotrophy myopathy from two families are reported. The first two cases belong to the type I fiber hypotrophy and central nuclei. Six cases have already been published. In addition to hypotonia, obvious thoracic anomalies are associated. The three other cases are members of the second sibship and belong to the type I fiber hypotrophy without central nuclei nor myothony and show the typical phenotypic characters: elongated face and adynamic appearance. Out of these three brothers, two show no progress and the other is getting worse slowly. The pathological findings together with the evolutive-clinic pattern of these patient are confronted with those published by other authors and sugestions are made to differentiate these two forms and to establish their relationships with the other types of congenital myopathies, mainly with centronuclear myopathy and congenital fiber type disproportion.

[Fucosidosis type 2. A new case (author's transl)]. / Fucosidosis tipo 2. Aportación de un nuevo caso.

We have studied a child 10 years old with a defficit of alpha-fucosidase demonstrated in the urine, serum, tears and fibroblasts culture. The clinical evolution and the presence of a "angiokeratom corporis diffusum" permits one to diagnose the patient in the type 2 fucosidosis. We have revised the clinical features, the exigible criteria for biochemical diagnosis, the histopathological findings, ultrastructural alterations and the genetic aspects; specially the behaviour of the H substance and Lewis in the red cell and saliva.

[Congenital arachnoid cysts of the posterior fossa midline. On their anatomoradiological variability (author's transl)]. / Quistes aracnoideos congénitos de la línea media en la fosa posterior. Sobre su variabilidad anatómico-radiológica.

An anatomical and radiological study of seven cases with arachnoid cyst of the midline of the posterior fossa in which there was either necropsic or surgical anatomical diagnosis is reported. A great variation was observed regarding their location, size and extension, which covers all the zone existing between the foramen of Magendie and the quadrigeminal lamina, presenting two cases which rose to the medial fossa, one of them entering in a left lateral ventricle and implanting itself in its' walls. Associated to arachnoid cysts other malformations have been found, such as type I Chiari, partial agenesis of the vermis, cerebellar dismorphies and stenosis of the aqueduct. Neuroradiological examination is fundamental for diagnosis, existing important alterations both in plain skull X-Rays and pneumoencephalography, ventriculography and vertebral and carotid angiographies. There are no strict neuroradiological patterns in the study with air nor in arterial and or venous times of angiography which define assuredly, presence, of the arachnoid cyst, since each case shows different findings. However, the conjugated analysis of all explorations must give correct diagnosis in almost the totality of cases.

Developmental defects of the cerebellum. A radiologic and anatomic investigation.

A classification of cerebellar malformations is proposed, based on more than fifty cases with varying degrees of abnormality, where comparative anatomic and radiologic analysis was carried out. The anatomic information was collected at surgery or autopsy and the radiologic evidence was derived from encephalography or ventriculography and vertebral angiography. The malformations were classified in four groups in order of gravity, with regard to the morphologic and etiologic features: (1) total or sub-total agenesia of the cerebellar structures (vermis and hemispheres); (2) almost complete agenesia of the vermis associated with the Dandy-Walker malformation; (3) almost complete agenesia of the vermis without the Dandy-Walker malformation; (4) partial defects of the vermis, which could be separated into four subdivisions.

Cerebro-facio-thoracic dysplasia: report of three cases.

Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.