[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics].
OBJECTIVE
Steinert's congenital myotonic dystrophy (CMD) is a systemic disease with autosomal mother-to-child transmission and characterized by generalized hypotonia, areflexia, facial diplegia, respiratory and alimentary diseases, arthrogryposis, polyhydramnios, etc. We present the study of the clinical and epidemiological characteristics of Steinert's CMD in our population, with special attention to its dysmorphological features.


METHODS
In this study we present the analysis of 12 cases of Steinert's CMD identified among 26,956 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1998.


RESULTS
The minimum estimation of the prevalence in our population is 0.08 per 10,000 live births. We have epidemiologically observed in newborns with Steinert's CMD the presence of a statistically significant difference in the following variables: lower gestational age and birth weight, more polyhydramnios, more feet presentations and Cesarean sections, and a higher frequency of similar congenital defects in first degree relatives. The congenital defects most frequently associated to our population of CMD are located in the extremities, the head and face.


CONCLUSIONS
It is important to recognize the congenital defects associated with neuromuscular disorders in the neonatal period, and particularly, the wide spectrum of Steinert's CMD that results in a fetal hypokinesia deformation sequence.
González de Dios
J
J
Departamento de Pediatría, Hospital Universitario San Juan, Universidad Miguel Hernández, Alicante.
Martínez Frías
M L
ML
Egües Jimeno
J
J
Gairi Tahull
J M
JM
Gómez Sabrido
F
F
Morales Fernández
M C
MC
Paisán Grisolía
L
L
Pardo Romero
M
M
Medina Rams
M
M
D016022:Case-Control Studies; D019465:Craniofacial Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000453:epidemiology*; D015995:Prevalence; D013030:Spain / Q000453:epidemiology