Epidemiological aspects of Mendelian syndromes in a spanish population sample: I. Autosomal dominant malformation syndromes

Martı́nez-Frı́as, María Luisa; Bermejo, Eva; Cereijo, A.; Sánchez, M.; López, M.C. Medina; Gonzalo, C.

doi:10.1002/ajmg.1320380424

Cited by 26 publications

(13 citation statements)

References 10 publications

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“…This study showed that the incidence of birth defects at birth is 31.46/1000 total birth. This rate is higher than that found in many developed as well as some developing countries, while it appears similar to that observed in some neighboring countries (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30) (Table 3). However the expected rate in our study could be higher as some of the congenital malformations might not be evident at birth like cardiovascular, internal gastrointestinal tract, and renal anomalies.…”

Section: Discussionsupporting

confidence: 81%

Incidence of Birth Defects at Birth among Babies Delivered at Maternity and Children Teaching Hospital in Ramadi

2013

Al-Anbar Medical Journal

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Section: Discussionsupporting

confidence: 81%

Incidence of Birth Defects at Birth among Babies Delivered at Maternity and Children Teaching Hospital in Ramadi

2013

Al-Anbar Medical Journal

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“…13,14 It is still higher than that reported by the WHO in other populations (12.7 per 1000) in 16 countries. 13 Other studies among live born neonates showed different prevalence figures; in Spain (20.23 per 1000), 15 in Libyan Arab Jamahiriya (23.8 per 1000), 16 in India (27.2 per 1000), 17 and the Federal Republic of Germany where figures of 6.9% for major malformation and 35.8% for mild errors of morphogenesis were reported among live births, stillbirths and abortions. 18 …”

Section: Discussionmentioning

confidence: 97%

Pattern of Congenital Anomalies in Newborn: A Hospital-Based Study

2013

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Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified according to their severity, pathogenic mechanism, or whether they are involving a single system or multiple systems. This hospital-based prospective descriptive study highlights the prevalence of Congenital Anomalies (CAs) in one year among live born neonates delivered in Zagazig University Hospital (Egypt). All women giving birth to viable babies were included. Demographic details, associated risk factors and the type of CAs in all babies were recorded. Diagnosis of CAs was based on clinical evaluation, radiographic examination, ultrasonography, echocardiography and chromosomal analysis of the newborn whenever recommended. The overall incidence of CAs among live born neonates was 2.5%, as most of the cases were referred to Zagazig University Hospital (Egypt) for delivery. The musculoskeletal system (23%) was the most commonly involved followed by the central nervous system (20.3%). Involvement of more than one system was observed in (28.6%) cases. Among maternal and fetal risk factors; parental consanguinity, maternal under nutrition and obesity, positive history of an anomaly in the family, low birth weight, and prematurity were significantly associated with higher frequency of CAs (P<0.05), with non-significant differences for maternal age and the sex of the neonates. The current study highlights the prevalence of congenital anomalies in one year in Zagazig University Hospital. It revealed a high prevalence of congenital anomalies in our locality and stressed the importance of carrying out a thorough clinical examination of all neonates at birth.

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“…The group of short‐limb skeletal dysplasias includes several clinically distinct syndromes, the most studied being achondroplasia (ACH), TD types I (TDI) and II (TDII), hypochondroplasia (HCH), and, to a lesser degree, severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). These are among the most frequent congenital defect syndromes detected at birth [Martínez‐Frías et al, 1991; Bermejo et al, 2005].…”

Section: Summary Of Some Epidemiological Clinical and Genetic Issuesmentioning

confidence: 99%

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

Martı́nez-Frı́as¹,

Frutos²,

Bermejo³

et al. 2009

American J of Med Genetics Pt A

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Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We review the clinical, epidemiological, radiological, molecular aspects, and signaling pathways involved in these conditions. It is known that FGFR3 signaling is essential to regulate bone growth. The signal transducers and activators of transcription (STAT1) pathway is involved in the inhibition of chondrocyte proliferation, and the mitogen-activated protein kinase (MAPK) pathways are involved in chondrocyte differentiation. Hence, FGFR3 signaling is pivotal in chondrocyte differentiation and proliferation through these two different active pathways. Recent studies on the molecular mechanisms involved in chondrocyte differentiation and proliferation, demonstrated that Snail1 participates in the control of longitudinal bone growth and appears to be essential to transduce FGFR3 signaling during chondrogenesis. This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target.

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Epidemiological aspects of Mendelian syndromes in a spanish population sample: I. Autosomal dominant malformation syndromes

Cited by 26 publications

References 10 publications

Incidence of Birth Defects at Birth among Babies Delivered at Maternity and Children Teaching Hospital in Ramadi

Incidence of Birth Defects at Birth among Babies Delivered at Maternity and Children Teaching Hospital in Ramadi

Pattern of Congenital Anomalies in Newborn: A Hospital-Based Study

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

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