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Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.

• M L Martinez-frias, Eva Bermejo, +12 authors María Socorro Vázquez
• Journal of pediatric surgery
• 2009

PURPOSE The aim of the study was to analyze the frequency and certain epidemiological characteristics of a consecutive series of conjoined twins born in Spain. MATERIAL AND METHODS We used data… (More)

Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.

• M L Martinez-frias, E. Bermejo, +7 authors J. M. Gairi
• American journal of medical genetics
• 1994

We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the… (More)

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

• M L Martinez-frias, Jaime Luis Frías, E Paredes Galan, R. Barti i Domingo, Luis Paisán, Manuel Blanco
• American journal of medical genetics
• 1992

We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia,… (More)

Amelia: analysis of its epidemiological and clinical characteristics.

• M L Martinez-frias, E. Bermejo, +13 authors Ligia Valdivia
• American journal of medical genetics
• 1997

Eighteen cases of amelia in the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed epidemiologically. Prevalence at birth was 0.15 per 10,000 newborn infants, which is not… (More)

Cerebral abnormalities in congenital myotonic dystrophy.

• Alfredo García-Alix, Fernando Cabañas, +4 authors José Quero
• Pediatric neurology
• 1991

The brain structure of 14 infants born with congenital myotonic dystrophy at 2 hospitals was evaluated by cranial ultrasonography, and the findings were correlated with clinical and neuropathologic… (More)

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

• M L Martinez-frias, Miguel Urioste, +7 authors Pilar Garcia Aparicio
• American journal of medical genetics
• 1995

Lubinsky [Am J Med Genet 3:23-28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition… (More)

Pure partial trisomy 7q: two new patients and review.

• Laura Rodríguez, Fermina López, +5 authors M L Martinez-frias
• American journal of medical genetics
• 2002

We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension.… (More)

DK-phocomelia syndrome in a child with a long follow-up.

• Miguel Urioste, Luis Paisán, M L Martinez-frias
• American journal of medical genetics
• 1994

We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital… (More)

[Rectal agenesis with absent bladder in a female newborn (author's transl)].

• Juan Antonio Tovar, M Barriola, Luis Paisán
• Chirurgie pediatrique
• 1978

This paper reports a very unusual variety of female ano-rectal agenesis without fistula associated with severe urogenital malformations. The patient died of renal failure and, at autopsy, both… (More)

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].

• M L Martinez-frias, E. Bermejo, +9 authors Elvira Rodríguez-Pinilla
• Anales espanoles de pediatria
• 1998

OBJECTIVE The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation. … (More)

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