American Journal of Medical Genetics 37:463-464 (1990)
Letter to the Editor “C” Trigonocephaly Syndrome: Two Additional Cases To the Editor: We report on two additional cases of C-Trigonocephaly that were referred to us after preparation of our manuscript [Lalatta e t al., 19901.These cases further confirm clinical variability of this syndrome as already observed in our 3 cases.
to our attention because the mother was pregnant and wanted to know whether she had a recurrence risk. Our physical examination a t the age of 7 years: weight 25 kg (90th centile), height 125 cm (90th centile), OFC 52.8 cm (50th centile). He also had trigonocephalic skull with prominence of the metopic suture, bitemporal depression and flat occiput, hypoplasia of supraorbital ridges, upslanting of palpebral fissures, bilateral epicanthus,
PATiENT 1 R.P., a boy, was the second child of healthy non-related parents 32 and 35 years old. Family history is unremarkable. Pregnancy was uncomplicated and the baby was delivered by breech presentation a t the 39th week of gestation. Birth weight was 3,070 g (10th-25th centile), length 48 cm (10th centile), occipito-frontal head circumference (OFC) 34 cm (10th-25th centile). At birth he had diffuse hirsutism, a trigonoscaphocephalic skull with prominence of the metopic suture and bitemporal depression, up-slanting of palpebral fissures and bilateral epicanthus, broad and mildly depressed nasal bridge with anteverted nostrils and long philtrum. Ears were apparently low-set, posteriorly angulated with prominently folded helices and anteversion of lobules; palate was completely cleft (Figs.1 and 2). The neck was short with redundant skin; hands showed bilateral camptodactyly and postaxial polydactyly (Fig. 3). Testes were undescended and could not be palpated in the inguinal canal. The baby was moderately hypotonic. An echocardiographic examination showed a n interventricular defect; abdominal ultrasonography demonstrated a small left kidney with normal collecting system. Chromosome analysis, using high resolution banding, did not show structural anomalies. The baby dies a t age one month; autopsy was not performed, PATIENT 2 M.M., a boy, is the first child of healthy non-related parents, 37 and 24 years old. Family history is unremarkable. The pregnancy was complicated by vaginal bleeding during the first trimester. The baby was delivered a t term by vertex. Birthweight was 3,200 g (50th centile), length 49 cm 10th centile), OFC 36 cm (50th centile). echocardiographic examination showed a subaortic valvular stenosis. The baby was referred as “dysmorphic” and followed without specific diagnosis until the age of 7 years. The medical history is inadequate. He had a n inguinal hernia corrected a t the age of 3 years and was treated for a squint a t 5 years. He came
0 1990 Wiley-Liss, Inc.
Fig. 1. Patient 1 a t birth showing trigonocephaly, bitemporal depression, upslanting of palpebral fissures, bilateral epicanthus, long philtrum and short neck. Fig. 2. Profile of the same patient showing depressed nasal bridge and anteverted nostrils, apparently low-set and posteriorly angulated ears with prominent folded helix and anteversion of lobe. Fig. 3. Patient 1: post-axial polydactyly.
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Camera et al. malar hypoplasia, thin beaked nose, long and featureless philtrum, thin upper lip, micro-retrognathia (Fig. 4). The palate was highly arched and narrow with broad alveolar ridges and malpositioned teeth. Ears were posteriorly angulated with hypoplasia of helix and antihelix. Pectus excavatum, shortness of the third and forth fingers, hypoplasia of thenar and hypothenar area were also present. A cafe-au-lait spot was noted on the right leg. Chromosome analysis with high resolution banding did not show any structural anomalies. Psychomotor delay was very severe; nevertheless, the child attends a public school with support of a personal teacher and a specific physiotherapy program.
REFERENCES Lalatta F, Bagozzi DC, Salmoiraghi MG, Tagliabue P, Tischer C, Zollino M, DiRocco C, Neri G, Opitz J M (1990):“C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatment. Am J Med Genet 37:451-456.
Gianni Camera Centro di Genetica Umana Ospedali Galliera, Genova Fig. 4. Patient 2 at 7 years of age showing prominence of metopic suture, bitemporal depression, hypoplasia of supraorbital ridges, upslanting of palpebral fissures, bilateral epicanthus, malar hypoplasia, thin beaked nose, long and featureless philtrum, thin upper lip and micrognathia.
Giovanni Serra Sezione di Patologia Neonatale Istituto Gaslini Universita di Genova Angelo Selicorni I1 Clinical Pediatrica Universita di Milano.
Letter to the Editor “C” Trigonocephaly Syndrome: Two Additional Cases To the Editor: We report on two additional cases of C-Trigonocephaly that were referred to us after preparation of our manuscript [Lalatta e t al., 19901.These cases further confirm clinical variability of this syndrome as already observed in our 3 cases.
to our attention because the mother was pregnant and wanted to know whether she had a recurrence risk. Our physical examination a t the age of 7 years: weight 25 kg (90th centile), height 125 cm (90th centile), OFC 52.8 cm (50th centile). He also had trigonocephalic skull with prominence of the metopic suture, bitemporal depression and flat occiput, hypoplasia of supraorbital ridges, upslanting of palpebral fissures, bilateral epicanthus,
PATiENT 1 R.P., a boy, was the second child of healthy non-related parents 32 and 35 years old. Family history is unremarkable. Pregnancy was uncomplicated and the baby was delivered by breech presentation a t the 39th week of gestation. Birth weight was 3,070 g (10th-25th centile), length 48 cm (10th centile), occipito-frontal head circumference (OFC) 34 cm (10th-25th centile). At birth he had diffuse hirsutism, a trigonoscaphocephalic skull with prominence of the metopic suture and bitemporal depression, up-slanting of palpebral fissures and bilateral epicanthus, broad and mildly depressed nasal bridge with anteverted nostrils and long philtrum. Ears were apparently low-set, posteriorly angulated with prominently folded helices and anteversion of lobules; palate was completely cleft (Figs.1 and 2). The neck was short with redundant skin; hands showed bilateral camptodactyly and postaxial polydactyly (Fig. 3). Testes were undescended and could not be palpated in the inguinal canal. The baby was moderately hypotonic. An echocardiographic examination showed a n interventricular defect; abdominal ultrasonography demonstrated a small left kidney with normal collecting system. Chromosome analysis, using high resolution banding, did not show structural anomalies. The baby dies a t age one month; autopsy was not performed, PATIENT 2 M.M., a boy, is the first child of healthy non-related parents, 37 and 24 years old. Family history is unremarkable. The pregnancy was complicated by vaginal bleeding during the first trimester. The baby was delivered a t term by vertex. Birthweight was 3,200 g (50th centile), length 49 cm 10th centile), OFC 36 cm (50th centile). echocardiographic examination showed a subaortic valvular stenosis. The baby was referred as “dysmorphic” and followed without specific diagnosis until the age of 7 years. The medical history is inadequate. He had a n inguinal hernia corrected a t the age of 3 years and was treated for a squint a t 5 years. He came
0 1990 Wiley-Liss, Inc.
Fig. 1. Patient 1 a t birth showing trigonocephaly, bitemporal depression, upslanting of palpebral fissures, bilateral epicanthus, long philtrum and short neck. Fig. 2. Profile of the same patient showing depressed nasal bridge and anteverted nostrils, apparently low-set and posteriorly angulated ears with prominent folded helix and anteversion of lobe. Fig. 3. Patient 1: post-axial polydactyly.
464
Camera et al. malar hypoplasia, thin beaked nose, long and featureless philtrum, thin upper lip, micro-retrognathia (Fig. 4). The palate was highly arched and narrow with broad alveolar ridges and malpositioned teeth. Ears were posteriorly angulated with hypoplasia of helix and antihelix. Pectus excavatum, shortness of the third and forth fingers, hypoplasia of thenar and hypothenar area were also present. A cafe-au-lait spot was noted on the right leg. Chromosome analysis with high resolution banding did not show any structural anomalies. Psychomotor delay was very severe; nevertheless, the child attends a public school with support of a personal teacher and a specific physiotherapy program.
REFERENCES Lalatta F, Bagozzi DC, Salmoiraghi MG, Tagliabue P, Tischer C, Zollino M, DiRocco C, Neri G, Opitz J M (1990):“C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatment. Am J Med Genet 37:451-456.
Gianni Camera Centro di Genetica Umana Ospedali Galliera, Genova Fig. 4. Patient 2 at 7 years of age showing prominence of metopic suture, bitemporal depression, hypoplasia of supraorbital ridges, upslanting of palpebral fissures, bilateral epicanthus, malar hypoplasia, thin beaked nose, long and featureless philtrum, thin upper lip and micrognathia.
Giovanni Serra Sezione di Patologia Neonatale Istituto Gaslini Universita di Genova Angelo Selicorni I1 Clinical Pediatrica Universita di Milano.
