Sindrome di Melnick Needles OMIM 309350
Sindrome di Melnick Needles OMIM 309350
E' una rara sindrome legata all'X trasmessa con odalità autosomica dominante e dovuta a mutazioni del gene FLNA.
E' caratterizzata da ossa lunghe incurvate, costole a nastro e micrognazia marcata.
E' letale nei maschi dove oltre le ossa ricurve, costole a nastro e micrognazia marcata sono stati descritte altre anomalie: agenesia dei pollici, palatoschisi, piede torto, onfalocele.
Nelle femmine si manifesta con un fenotipo più lieve.
La sindrome di Melnick Needles appartiene al quadro fenotipico della Osteodisplasia Fronto-Oto-Palato-Digitale che comprende le sindromi oto-palato-digitale tipo 1 e 2, la displasia frontometafisaria e la sindrome di Melnick Needles, tutte legate all'X e dovute a mutazioni del gene FLNA.
Bibliografia
Coste, F., Maroteaux, P.,
Chouraki, L. Osteodysplasty (Melnick and Needles' syndrome): report of a case.
Ann. Rheum. Dis. 27: 360-366, 1968.
Donnenfeld,
A. E., Conard, K. A., Roberts, N. S., Borns, P. F., Zackai, E. H.
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies
syndrome. Am. J. Med. Genet. 27: 159-173, 1987.
Fryns, J.
P., Schinzel, A., Van den Berghe, H. Hyperlaxity in males with Melnick-Needles syndrome.
Am. J. Med. Genet. 29: 607-611, 1988. [PubMed: 3377003, related citations]
Gorlin, R. J.,
Langer, L. O., Jr. Melnick-Needles syndrome: radiographic alterations in the
mandible. Radiology 128: 351-353, 1978.
Krajewska-Walasek,
M., Winkielman, J., Gorlin, R. J. Melnick-Needles syndrome in males. Am. J.
Med. Genet. 27: 153-158, 1987.
Melnick, J.
C. Osteodysplasty (Melnick and Needles syndrome).In: Papadatos, C. J.;
Bartsocas, C. S. (eds.) : Skeletal Dysplasias. New York: Alan R. Liss (pub.)
1982. Pp. 133-137.
Melnick, J.
C., Needles, C. F. An undiagnosed bone dysplasia: a two family study of 4
generations and 3 generations. Am. J. Roentgen. Radium Ther. Nucl. Med. 97:
39-48, 1966.
Neou, P.,
Kyrkanides, S., Gioureli, E., Bartsocas, C. S. Melnick-Needles syndrome in a
mother and her son. Genet. Counsel. 7: 123-129, 1996.
Sellars, S.
L., Beighton, P. H. Deafness in osteodysplasty of Melnick and Needles. Arch.
Otolaryng. 104: 225-227, 1978.
Svejcar, J.
Biochemical abnormalities in connective tissue of osteodysplasty of
Melnick-Needles and dyssegmental dwarfism. Clin. Genet. 23: 369-375, 1983.
van der
Lely, H., Robben, S. G. F., Meradji, M., Derksen-Lubsen, G. Melnick-Needles
syndrome (osteodysplasty) in an older male--report of a case and a review of
the literature. Brit. J. Radiol. 64: 852-854, 1991.
Verloes,
A., Lesenfants, S., Barr, M., et al. Fronto-otopalatodigital osteodysplasia:
clinical evidence for a single entity encompassing Melnick-Needles syndrome,
otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am.
J. Med. Genet. 90: 407-422, 2000.
von Oeyen,
P., Holmes, L. B., Trelstad, R. L., Griscom, N. T. H. Omphalocele and multiple
severe congenital anomalies associated with osteodysplasty (Melnick-Needles
syndrome). Am. J. Med. Genet. 13: 453-463, 1982.
von Oeyen,
P. T., Holmes, L. B., Trelstad, R. L., Griscom, N. T. Melnick-Needles syndrome
with omphalocele and renal hypoplasia. (Abstract) Am. J. Hum. Genet. 33: 92A
only, 1981.
Zackai, E.
H., Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F. The male
Melnick-Needles syndrome phenotype. (Abstract) Am. J. Hum. Genet. 39: A88 only,
1986.
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