Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. CASE REPORT: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. CONCLUSIONS: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]. / Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann.

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.

[Diagnosis of dominant renal polycystosis in adults by analysis of DNA polymorphism]. / Diagnóstico de la poliquistosis renal dominante del adulto mediante análisis de los polimorfismos del ADN.

BACKGROUND: Adult renal polycystosis (ARP) is a dominant autosomic disease. The gene responsible for this disease in most families has been located on the short arm of chromosome 16 (16 p) by restriction analysis of the DNA polymorphisms (RFLP). METHODS: The existence of several polymorphic markers flanking this gene permits the diagnosis of any member of an affected family. A series of proximal and distal genetic markers have been used to study the segregation of the disease in a group of families with more than one affected member. RESULTS: The clinical and genetic results obtained from a study of 10 Spanish families with ARP have been reported. A high percentage of the members under 30 years of age (40%) did not present renal cysts. CONCLUSIONS: Restriction analysis of DNA are fundamentally for a disease in which a high percentage of carriers remain asymptomatic within the reproductive age.

[Prevalence of Down's syndrome in Asturias, 1987-1993. Members of the Work Group of the RCDA]. / Prevalencia del síndrome de Down en Asturias, 1987-1993. Miembros del grupo de Trabajo del RDCA.

OBJECTIVE: To determine the frequency of Down Syndrome (DS) in Asturias and the prenatal diagnosis impact on the birth prevalence of this chromosomal anomaly. METHODS: The analysed data came from the Registry of Congenital Defects of Asturias (1990-1993) and from a retrospective study conducted by the same working group (1987-1989). The total prevalence rates and the prevalence at birth were calculated. RESULTS: Out of 55,601 births, DS was recorded in 83 cases: 69 livebirths, two fetal deaths and 12 induced abortions following prenatal diagnosis, giving a total prevalence rate of 14.9 per 10,000 and a birth prevalence of 12.8. The proportion of induced abortions was 15 per cent in this period; the proportion of cases in the high risk maternal age group (35 years and over) was around 50% of the total. The proportion of induced abortions was 15 per cent in this period. CONCLUSIONS: The frequency of DS in Asturias is comparable to the other populations. Prenatal diagnosis had little impact on the birth prevalence figures. These results may help us draw up prevention and prenatal diagnosis policies for these defects in Asturias when giving the frequency of this health problem.

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. / Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable.

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). CONCLUSIONS: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.

[The epidemiology of cleft lip and palate over the period 1990-2004 in Asturias]. / Epidemiología de las fisuras labiales y palatinas durante los años 1990-2004 en Asturias.

INTRODUCTION: Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.

[Familial vesicoureteral reflux (author's transl)]. / Reflujo vesicoureteral familiar.

Sixteen members of three families, eight of which had vesicoureteral reflux, are studied. Authors report a high incidence in females (7 cases) and atrophic chronic pyelonephritis (75% of the serie). Only one girl presented disminution of renal function. The types of inheritance was dominant autosomal in the A family and autosomal recessive in the B and C families. Finally the norms of investigation of the familial vesicoureteral reflux are appointed.

[Anorectal and external genitalia malformation associated with perineal hemangioma]. / Atresia anorrectal y malformación de genitales externos asociado a hemangioma perineal.

We describe a girl with anorectal and genitourinary malformation with perineal hemangioma. Posterior sagittal anorectoplasty was performed at 21 months of age with good functional results. The hemangioma required no treatment and involuted spontaneously when the patient was 6 years old. Although anorectal malformations are frequently associated with multiple congenital anomalies, the association described herein is uncommon and we found only three similar cases reported in the medical literature.

[Karyotype in GPG bands: description of a elementaly technique for routine (author's transl)]. / Cariotipo en bandas GPG. Descripción de una técnica elemental para rutina.

A new technic for banded chromosomes, with similar results (100%) to those obtained with chromatids modification by trypsin (G bands), is described. The key consists in Pyronin addition (20 mg.%) to distilled water at hypotonic shock, following then a standard karyotype technic assayed with micro-method, reaching banding after Giemsa tinction at 3% in 6.7 phosphate pH. Its interest radicates in chromosome modification in vivo, simplicity, fiability (80% of excellent results) and reproductibility, allowing any cytogenetic laboratory a routine obtention of G bands in only four days.

Renal amyloidosis complicating a recessive epidermolysis bullosa in childhood.

A case of recessive epidermolysis bullosa and secondary renal amyloidosis in a nine-year-old boy is reported. The first case observed in childhood. The clinical relationships of the two conditions are briefly discussed.

[Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas]. / Deleción terminal del 11q (síndrome de Jacobsen) asociada a atresia duodenal con páncreas anular.

Jacobsen syndrome is a rare chromosomal disorder due to terminal 11q deletion. Prominent features are growth and psychomotor retardation, trigonocephaly and a characteristic facial dysmorphism, but many different abnormalities have been reported. We present the case of a preterm male. Prenatal ultrasonography was suspicious for duodenal atresia. At birth, the boy presented the craniofacial features typical of Jacobsen syndrome, together with diffusely spread petechiae and talipes equinovarus. Hemogram revealed pancytopenia. Ultrasound examination showed left renal agenesis and confirmed the duodenal atresia. Cerebral computed tomography scan, electroencephalogram and cardiac studies showed no abnormalities. Annular pancreas was found during surgery to correct the duodenal atresia. The karyotype was 46,XY,del(11)(q23.2 --> qter), which confirmed Jacobsen syndrome.A wide spectrum of clinical features is described in Jacobsen syndrome, with phenotype-karyotype correlation. This is the first report of duodenal atresia and annular pancreas.

[Fragile X syndrome and epilepsy]. / Síndrome X frágil y epilepsia.

Fragile X syndrome is the most frequent cause of genetically related mental retardation. Epilepsy, occurring in 20 to 40% of cases, is considered a minor sign. Age- and sex-dependent EEG patterns analogous to partial idiopathic epilepsy with rolandic paroxysms have been described. We analyze the clinical and electrical manifestations in a series of 10 patients between 4 and 60 years old; 3 suffered partial seizures developing into generalized seizures and 2 asymptomatic patients had EEG signs. In the remaining patients only slow background activity was observed. The EEG pattern and epileptic seizures were seen only in males. We believe that the association of sharp waves preceding rolandic paroxysm is a differential trait suggesting a structural alteration.

[Nemaline myopathy: apropos of a case]. / Miopatía nemalínica: A propósito de una observación.

Authors present a girl without familiar antecedents of consanguinity with mild motor deficiency, hypotonicity and obesity during infancy, with progressive posterior healing. The girl did not present Marfan's habit or special phenotype, and had small hypertrophy of calfs. There was not recurrent respiratory infections. EMG was myopathic and muscle dependent seric enzymes (CPK, ALD, LDH...) were normal. Radiographically films showed increased relationship fat-muscle and pathology by MO and ME confirmed the presence of small sticks in muscle fibers. After evaluating the case as a neomutation, the genetic counseling is made.

[Primary pancreatic hydatid cyst and primordial familial dwarfism]. / Quiste hidatídico pancreático primitivo y enanismo primordial familiar.

A 10 years and 7 months old male, was studied for a pathologic, primordial hipogrowing disease, probably due to a recessive and autosomic transmission, because he has got a sister with the same illness, and he was diagnostified of a pancreatic cyst, whind was found in an echographical exploration and established by scanner as intraglandular cyst. There are no others cysts found detected in a complete body-check. The chirurgic findings was a solitary hydatidic intrapancreatic cyst whid was extirpated. The patient's and sister's facial characteristics (big nose, long and thin neck, large forehead), the normal hormonal study in this case, the observation of small bone defects (first finger of the foot thicker than usual, cone epifisis in hands), a normal intelligence and the not accordance between them and the usual in literature described kind, suggest to be a different form the congenital autosomic, recessive dwarfism, not according to the usual one.

[Ehlers-Danlos syndrome: apropos of three cases]. / Síndrome de Ehlers-Danlos: a propósito de tres casos.

3 children, 2 male and one female, affected by Ehlers-Danlos syndrome, types I or dangerous, III or mild familiar hypermobility, and (II or V)? or intermediate. The types I and (II or V)? normally affect the skin and the lower extremities, in the form of breakable skin, hyperelasticity... The type III predominantly attacks the joints and tends to dislocate bones. In the dermic distant zones, the skin is thin with excessive folds. The importance of early detection is due to prevention or control or the complications (depending on the type of illness), and inform about the genetic risk, based in a correct typification, this has clinics difficult because there are intermediary forms and it is necessary a specialized laboratory in collagen's studies.