American Journal of Medical Genetics 43:385 (1992)
Letter to the Editor C Syndrome and Omphalocele: Another Example To the Editor: We read with interest the report by Lalatta et al. [19901, and would like to report another example of a patient with C syndrome and a large omphalocele. A.C.B. was referred at 8 months because of delayed psychomotor development, bilateral cryptorchidism, and a large omphalocelecorrected neonatally. On physical examination he was a moderately retarded boy weighing 7,000 g, measuring 65 cm and with a head circumference of 41.5 cm (all measures below the third centile for age). He had a pronounced metopic suture with trigonocephaly, upslant of the palpebral fissures, strabismus, hypertelorism, bitemporal constriction, hypoplastic nasal root, wide mouth, epicanthic folds, a highly arched palate, broad alveolar ridges, hypertrophic frenulum, short neck, abdominal midline surgical scar, and bilateral cryptorchidism. Dermatoglyphics were: Right: t', abcd, L", A, A, L", L". Left: t',abcd, A, A, A, L", L". Hallucal area patterns were bilateral fibular loops. Ophthalmologic examination demonstrated only strabismus. Skeletal radiological examination showed no abnormalities and normal bone age. Abdominal ultrasonography suggested presence of horseshoe kidneys. Chromosomes (high-resolution) were normal (46,XY).Parents are young and nonconsanguineous and neither has trigonocephaly. Father has 3 children from a previous marriage without congenital anomalies. It seems that omphaloceleand hypertrophic frenulum [De Koster et al., 19901 should be added to the likely clinical manifestations of the C syndrome. The horseshoe kidney abnormality reinforces the impression of midline development field involvement in this syndrome.
REFERENCES De Koster J, Legius E, de Zegher F, Devlieger H, Fryns JP, Eggermont E (1990): Optiz C syndrome and pseudohypoaldosteronism.Am J Med Genet 37:457-459. Lalatta F, Clerici-BagozziD, Salmoiraghi MG, Tagiabue P, Tischer C, Zollino M, Di Rocco C, Neri G, Optiz JM (1990):"C" trigonocephaly syndrome:clinical variability and possibility of surgical treatment. Am J Med Genet 37:451-456.
Fkceived for publication May 1, 1991; revision received November 6, 1991. Address reprint requests to Jose Carlos Cabral de Almeida, Unidade de Citogenetica Humana, Instituto de Biofisica Carlos Chagas Filho (UFRJ),CCS, Bloco G, Cidade Universitfiria, Ilha do Fundao, 21949, Rio de Janeiro, Brazil.
0 1992 Wiley-Liss, Inc.
Fig. 1. Patient at age 1 year.
Jose Carlos Cabral de Almeida Juan Clinton Llerena, Jr. Maria Regina Alonso Unidade de Citogenetica Humana Instituto de Biofisica Carlos Chagas Filho Universidade Federal do Rio de Janeiro Rio de Janeiro, Brazil Jose Carlos Cabral de Almeida Juan Clinton Llerena, Jr. Fernando Regla Vargas Maria Regina Alonso Centro de Genetica Medica Instituto Fernandes Figueira-FIOCRUZ Rio de Janeiro, Brazil
Letter to the Editor C Syndrome and Omphalocele: Another Example To the Editor: We read with interest the report by Lalatta et al. [19901, and would like to report another example of a patient with C syndrome and a large omphalocele. A.C.B. was referred at 8 months because of delayed psychomotor development, bilateral cryptorchidism, and a large omphalocelecorrected neonatally. On physical examination he was a moderately retarded boy weighing 7,000 g, measuring 65 cm and with a head circumference of 41.5 cm (all measures below the third centile for age). He had a pronounced metopic suture with trigonocephaly, upslant of the palpebral fissures, strabismus, hypertelorism, bitemporal constriction, hypoplastic nasal root, wide mouth, epicanthic folds, a highly arched palate, broad alveolar ridges, hypertrophic frenulum, short neck, abdominal midline surgical scar, and bilateral cryptorchidism. Dermatoglyphics were: Right: t', abcd, L", A, A, L", L". Left: t',abcd, A, A, A, L", L". Hallucal area patterns were bilateral fibular loops. Ophthalmologic examination demonstrated only strabismus. Skeletal radiological examination showed no abnormalities and normal bone age. Abdominal ultrasonography suggested presence of horseshoe kidneys. Chromosomes (high-resolution) were normal (46,XY).Parents are young and nonconsanguineous and neither has trigonocephaly. Father has 3 children from a previous marriage without congenital anomalies. It seems that omphaloceleand hypertrophic frenulum [De Koster et al., 19901 should be added to the likely clinical manifestations of the C syndrome. The horseshoe kidney abnormality reinforces the impression of midline development field involvement in this syndrome.
REFERENCES De Koster J, Legius E, de Zegher F, Devlieger H, Fryns JP, Eggermont E (1990): Optiz C syndrome and pseudohypoaldosteronism.Am J Med Genet 37:457-459. Lalatta F, Clerici-BagozziD, Salmoiraghi MG, Tagiabue P, Tischer C, Zollino M, Di Rocco C, Neri G, Optiz JM (1990):"C" trigonocephaly syndrome:clinical variability and possibility of surgical treatment. Am J Med Genet 37:451-456.
Fkceived for publication May 1, 1991; revision received November 6, 1991. Address reprint requests to Jose Carlos Cabral de Almeida, Unidade de Citogenetica Humana, Instituto de Biofisica Carlos Chagas Filho (UFRJ),CCS, Bloco G, Cidade Universitfiria, Ilha do Fundao, 21949, Rio de Janeiro, Brazil.
0 1992 Wiley-Liss, Inc.
Fig. 1. Patient at age 1 year.
Jose Carlos Cabral de Almeida Juan Clinton Llerena, Jr. Maria Regina Alonso Unidade de Citogenetica Humana Instituto de Biofisica Carlos Chagas Filho Universidade Federal do Rio de Janeiro Rio de Janeiro, Brazil Jose Carlos Cabral de Almeida Juan Clinton Llerena, Jr. Fernando Regla Vargas Maria Regina Alonso Centro de Genetica Medica Instituto Fernandes Figueira-FIOCRUZ Rio de Janeiro, Brazil
