+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature

, : Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clinical Dysmorphology 9(1): 1-9

Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous disorder often accompanied by additional anomalies, most commonly segmental overgrowth. Recently a clinically discrete condition has been described comprising CMTC and congenital macrocephaly together with pre- and post-natal macrosomia, segmental overgrowth, central nervous system malformations, connective tissue abnormalities and intellectual handicap. We describe the natural history of macrocephaly-CMTC (M-CMTC) syndrome in a further five patients including the oldest reported patient, a 22 year old. The addition of our five patients brings the total number of reported patients to 28 and now makes it possible to more accurately delineate the phenotype and the frequency of clinical manifestations. We add some further clinical associations to those previously described, including anomalies of the growth of hair and teeth, neuronal migration defects, dislocated hips and stridor. We discuss potential genetic mechanisms that might account for the pleiotropic manifestations of this apparently rare segmental overgrowth disorder.


PMID: 10649789

Other references

Reveal, James L., 1993: New subclass and superordinal names for extant vascular plants. One subclass and four superorders proposed by me in 1992 are validated here as the cited validating descriptions cited were not in Latin as required by Art. 36.1 of the International Code of Botanical Nomenclature. The new taxa are LAMIIDAE, EUCOM...

Anonymous, 1994: No need for a dry run. Lancet 344(8914): 1-2

Grove-Jones, N., 1977: How to maintain combine hydraulic reel lift. Power farming magazine: 86 (11) 47-48

Chism, J., 1978: Relationships between patas infants and group members other than the mother. Unknown

Karns, L.R.; Ng, S.C.; Freeman, J.A.; Fishman, M.C., 1987: Cloning of complementary DNA and GAP-43, a neuronal growth-related protein. The nucleotide sequence of rat cDNA encoding GAP-43 is presented.

Heldmaier G., 1971: Relationship between nonshivering thermogenesis and body size. Jansky, Led By . Nonshivering Thermogenesis. Symposium. 310p. Illus. Academia: Prague, Czechoslovakia. 73-81

Nakamura, C., 1992: Bone mass-increasing therapy Estrogen therapy. Orthopedic Surgery 43(8): 1174-1179

Krohwinkel, M., 1993: Pathways to the development of a nursing science able to be integrated into practice. Pflege 6(3): 183-190

Nasraoui M.; Bilal E.; Gibert R., 1999: Fresh and weathered pyrochlore studies by Fourier transform infrared spectroscopy coupled with thermal analysis. Fresh and weathered pyrochlore from the Lueshe carbonatite complex (in the northeast of the Democratic Republic of Congo) was studied by Fourier transform infrared (FTIR) spectroscopy and by a combination of FTIR spectroscopy and thermal analysis....

Palanza, P.; Morellini, F.; Parmigiani, S.; vom Saal, F.S., 2002: Ethological methods to study the effects of maternal exposure to estrogenic endocrine disrupters: a study with methoxychlor. There has been increasing interest, both at the scientific and regulatory level, in the use of ethological methods for evaluating neural effects of endocrine disrupters. We present a series of ethological studies on the effects of maternal exposur...