American Journal of Medical Genetics 43:626-627 (1992)
Letter to the Editor Lujan Syndrome in a Mexican Boy To the Editor: The Lujan syndrome (LS), a form of X-linked mental retardation with Marfanoid habitus, was identified in 4 males from an American family [Lujan et al., 19841. Corroborative reports from Belgium and Italy LFryns, 1991; Fryns and Buttiens, 1987; Gurrieri and Neri, 1991; Lalatta et al., 19911 have resulted in a better characterization of this disorder and raised to 18 the number of patients identified (17M: 1F);among these, 6 were isolated cases. Here we describe a further sporadic instance of the LS. The propositus, a Mexican mestizo boy, was the first child of a then primigravid 20-year-old mother and a nonconsanguineous 23-year-oldfather. The parents and 2 younger brothers appeared to be of normal intelligence and had no Marfanoid manifestations. Other than a maternal uncle deceased a t 13 years and reportedly unable to walk and speak, there was no history of mental retardation; specifically,5 other uncles, 4 aunts, and several male cousins (born to the latter) on the mother’s side were referred to as normal. Pregnancy and delivery were uneventful. Developmental delay was evident since early infancy and, despite conventional school attendance for 2 years, he cannot read or write. On examination at 8 years (Fig. 11,he was a communicative and friendly boy with a tall slender habitus: height 133 cm (90th centile), arm span 134 cm, and UIL segment ratio 0.95. He had a large head (OFC 53.8 cm, 90th centile), brachycephaly, ample forehead, narrow and triangular face, prominent nasal bridge, exophoria, malar hypoplasia, deep philtrum, highly arched palate, crowded teeth, and recessed mandible. His voice was high-pitched and hypernasal. Winged scapulae, lumbar hyperlordosis, a “cafe au lait” spot on the trunk, pes planus, and marked joint hyperextensibility (e.g., he was able, when in supination, to put his flexed knees behind his shoulders) were also present. There was neither pectus deformity nor cardiac murmur and the genitalia were infantile (testicular volume 1.1ml). A psychological assessment at 8-4/12 years using the WISC test showed a full scale I& of 58; otherwise, there was no obvious behavior deviation.
Received for publication May 24,1991; revision received August 21, 1991. Address reprint requests to H. Rivera, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico.
0 1992 Wiley-Liss, Inc.
The karyotype (GTG banding) was 46,XY and the fra(X) search was negative in 100 Giemsa-stained cells. A screening for amino acids and mucopolysaccharides in plasma and urine was normal. Skeletal radiographs demonstrated a large skull with several Wormian bones, gracile long bones, coxa valga, and a bone age of 5 years. A CT scan of the brain was normal. This patient showed the major characteristics of the LS, namely mental retardation, hypernasal voice, tall slender habitus, large head, narrow high nose, malar hypoplasia, highly arched palate, and joint hyperextensibility. He also exhibited, as some LS patients did, brachycephaly, triangular face, deep philtrum, crowded teeth, and recessed mandible [Carlin, 1990; Fryns, 1991; Lalatta et al., 19913. So, the diagnosis of LS in the present case seems certain despite the lack of family history. The delayed bone maturation has not been documented in 7 other patients under age 15 years. If this parodoxal finding is not incidental, then it may distinguish the LS from several overgrowth entities.
Fig. 1. The patient at 8 years. Note the tall slender habitus, peculiar face, hyperlordosis, and winged scapulae.
Letter to the Editor
REFERENCES Carlin ME (1990): X-linked mental retardation, Marfanoid habitus type. In Buyse ML (ed): “Birth Defects Encyclopedia.” Cambridge: Blackwell Scientific Publications, for the Center for Birth Defects lnformation Services, Inc., pp 1972-1973. Fryns J P (1991): X-linked mental retardation with Marfanoid habitus. Am J Med Genet 38:233. Fryns JP, Buttiens M (1987): X-linked mental retardation with Marfanoid habitus. Am J Med Genet 28267-274. Gurrieri F, Neri G (1991): A girl with the Lujan-Fryns syndrome. Am J Med Genet 38:290-291. Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lug0 M, Zollino M,
627
Gurrieri F, Neri G (1991):X-linked mental retardation with Marfanoid habitus: First report of four Italian patients. Am J Med Genet 38228-232. Lujan JE, Carlin ME, Lubs HA (1984): A form of X-linked mental retardation with Marfanoid features, Am J Med Genet 17:311-322.
H. Rivera M.L. Ramirez-Duenas C. Garcia-Ochoa Divisi6n de Genktica Instituto Mexican0 del Seguro Social Guadalajara, Jalisco, Mexico
Letter to the Editor Lujan Syndrome in a Mexican Boy To the Editor: The Lujan syndrome (LS), a form of X-linked mental retardation with Marfanoid habitus, was identified in 4 males from an American family [Lujan et al., 19841. Corroborative reports from Belgium and Italy LFryns, 1991; Fryns and Buttiens, 1987; Gurrieri and Neri, 1991; Lalatta et al., 19911 have resulted in a better characterization of this disorder and raised to 18 the number of patients identified (17M: 1F);among these, 6 were isolated cases. Here we describe a further sporadic instance of the LS. The propositus, a Mexican mestizo boy, was the first child of a then primigravid 20-year-old mother and a nonconsanguineous 23-year-oldfather. The parents and 2 younger brothers appeared to be of normal intelligence and had no Marfanoid manifestations. Other than a maternal uncle deceased a t 13 years and reportedly unable to walk and speak, there was no history of mental retardation; specifically,5 other uncles, 4 aunts, and several male cousins (born to the latter) on the mother’s side were referred to as normal. Pregnancy and delivery were uneventful. Developmental delay was evident since early infancy and, despite conventional school attendance for 2 years, he cannot read or write. On examination at 8 years (Fig. 11,he was a communicative and friendly boy with a tall slender habitus: height 133 cm (90th centile), arm span 134 cm, and UIL segment ratio 0.95. He had a large head (OFC 53.8 cm, 90th centile), brachycephaly, ample forehead, narrow and triangular face, prominent nasal bridge, exophoria, malar hypoplasia, deep philtrum, highly arched palate, crowded teeth, and recessed mandible. His voice was high-pitched and hypernasal. Winged scapulae, lumbar hyperlordosis, a “cafe au lait” spot on the trunk, pes planus, and marked joint hyperextensibility (e.g., he was able, when in supination, to put his flexed knees behind his shoulders) were also present. There was neither pectus deformity nor cardiac murmur and the genitalia were infantile (testicular volume 1.1ml). A psychological assessment at 8-4/12 years using the WISC test showed a full scale I& of 58; otherwise, there was no obvious behavior deviation.
Received for publication May 24,1991; revision received August 21, 1991. Address reprint requests to H. Rivera, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico.
0 1992 Wiley-Liss, Inc.
The karyotype (GTG banding) was 46,XY and the fra(X) search was negative in 100 Giemsa-stained cells. A screening for amino acids and mucopolysaccharides in plasma and urine was normal. Skeletal radiographs demonstrated a large skull with several Wormian bones, gracile long bones, coxa valga, and a bone age of 5 years. A CT scan of the brain was normal. This patient showed the major characteristics of the LS, namely mental retardation, hypernasal voice, tall slender habitus, large head, narrow high nose, malar hypoplasia, highly arched palate, and joint hyperextensibility. He also exhibited, as some LS patients did, brachycephaly, triangular face, deep philtrum, crowded teeth, and recessed mandible [Carlin, 1990; Fryns, 1991; Lalatta et al., 19913. So, the diagnosis of LS in the present case seems certain despite the lack of family history. The delayed bone maturation has not been documented in 7 other patients under age 15 years. If this parodoxal finding is not incidental, then it may distinguish the LS from several overgrowth entities.
Fig. 1. The patient at 8 years. Note the tall slender habitus, peculiar face, hyperlordosis, and winged scapulae.
Letter to the Editor
REFERENCES Carlin ME (1990): X-linked mental retardation, Marfanoid habitus type. In Buyse ML (ed): “Birth Defects Encyclopedia.” Cambridge: Blackwell Scientific Publications, for the Center for Birth Defects lnformation Services, Inc., pp 1972-1973. Fryns J P (1991): X-linked mental retardation with Marfanoid habitus. Am J Med Genet 38:233. Fryns JP, Buttiens M (1987): X-linked mental retardation with Marfanoid habitus. Am J Med Genet 28267-274. Gurrieri F, Neri G (1991): A girl with the Lujan-Fryns syndrome. Am J Med Genet 38:290-291. Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lug0 M, Zollino M,
627
Gurrieri F, Neri G (1991):X-linked mental retardation with Marfanoid habitus: First report of four Italian patients. Am J Med Genet 38228-232. Lujan JE, Carlin ME, Lubs HA (1984): A form of X-linked mental retardation with Marfanoid features, Am J Med Genet 17:311-322.
H. Rivera M.L. Ramirez-Duenas C. Garcia-Ochoa Divisi6n de Genktica Instituto Mexican0 del Seguro Social Guadalajara, Jalisco, Mexico
