Clinical Genetics 1979: 15: 241-244
Familial occurrence of syngnathia congenita syndrome I. GASSNER, W. MULLER,H. ROSSLER,J. KOFLERAND G . MI'ITERSTJELER
Universitats-Klinik fur Kinderheilkunde, Innsbruck, Austria A case of familial occurrence of syngnathia congenita in mother and child is described;
this syndrome has been seen only sporadically until now. Due to the distinct appearance of the intraoral chords - they were situated on both sides between the ridges of the jaw and also between the left half of the bifid uvula and the retrolingual region - a relationship to the autosomal-dominantly transmitted Cleft Palate Lateral Synechiae Syndrome (CPLSSyndrome) is suspected. Complete penetrance with different expressivity may explain the different clinical manifestations of the cases seen up to now and the absence of bifid uvula in the mother of our patient. The probable pathogenesis during embryological development is discussed. Received 31 July, accepted for publication 15 September I978 Key words: Embryological hypothesis; familial occurrence; genetic-clinical findings;
syngnathia congenita syndrome.
Syngnathia congenita syndrome is characterized by atypical congenital adhesions in the buccal cavity. Mouth opening is extremely restricted by connective and epithelial tissue adhesions between the ridges of the upper and lower jaws. These cause nutritional problems in newborn infants. So far, only sporadic cases have been reported. We were able to observe the familial occurrence of the syngnathia congenita syndrome in mother and child. Case Report
The propositus, L.M., was born in 1977. He was the first child of non-consanguineous parents. The mother has had no abortions or stillbirths. She was born with intraoral synechiae which were removed during
the neonatal period. She does not have cleft palate or any dental anomalies. After a normal pregnancy the child was delivered by caesarean section due to breech presentation (weight 3000 g, length 50 cm, head-circumference 35 cm). The child was transferred to the Children's Hospital, Innsbruck because of feeding problems due to the small mouth opening caused by synechiae of the jaws. Clinical examination showed a mature male newborn. T h e most the mouth could be opened was 5 mm between the frontal maxillary and frontal mandibulary ridges. On both sides the lateral ridges were joined by connective and epithelial tissue. There were also synechiae from the buccal side of the ridges t o the buccal mucosa (Fig. 1). The uvula was cleft and the left part was connected to the retro-
0009-9163/79/030241-04 $02.50/0 0 1979 Munksgaard, Copenhagen
242
GAONER, MULLER. RUSSLER, K O F L E R A N D MITTERSTIELER
Dlscusslon
Flg. 1. Syngnathia congenita, as described in text.
lingual region. There were no further abnormalities. The child was fed by tube for the first 10 days. Then the synechiae were severed with scissors under intubation anaesthesia. Afterwards the child was able to open his mouth normally.
Results
The occurrence of syngnathia in mother and child indicates a dominant inheritance which has not previously been seen in the syngnathia congenita syndrome. An unusual feature in our patient compared to other cases was the presence of adhesions between the buccal side of the jaw and mucosa and between the left part of the bifid uvula and the retrolingual region. The clinical picture is different in mother and child.
Congenital lateral synechiae in the mouth occur in the syngnathia congenita syndrome and in the CPLS syndrome (Fuhrmann et al. 1972). The CPLS syndrome is characterized by a combination of cleft palate and symmetrical synechiae between the edges of the cleft and the lateral areas of the tongue and the floor of the mouth. Additional characteristics are moderate hypoplasia of the lower jaw and of the tongue, and a relatively short upper lip. The pathogenesis of the adhesions of both clinical pictures is discussed as follows (Fig. 2). As long as the mouth cavity is cleftformed in the embryo, and the tongue is lying next t o the nasel cavity, the edge of the tectal wall of the upper jaw is almost touching the blastema of the lower jaw with its ridge. The possibilities for the development of the synechiae are twofold: disproportionate growth of the tectal wall and/or excessive proliferation of the epithelial layer of the blastema of the lower jaw. Proof of this speculation is afforded by the observation of synechiae in human embryos made by Hochstetter. H e also suspected that a mesodermal synechia may follow an epithelial one (Hochstetter 1948). Excised jaw-chords of a 2-day-old female newborn showed histologically vascularized connective tissue and bundles of muscle fibres covered with multistratified epithelium (Mathis 1962). The neighbouring embryonic tissues (palate fold, dental ridge, tongue) can be arrested in their normal development by conglutinations. Disturbances of palatal fusion, anomalies of the palatal profile and the uvula, anomalies of dentition, and excess or deficiency of teeth and dysplasia of the tongue can follow. It appears that the synechia is not substantiated as a cause of cleft palate in the CPLS syndrome, since in the same family cleft palate has occurred with
SYNGNATHIA CONGENITA SYNDROME
243
Flg. 2. Photomicrograph of a section through the developing mouth region of a 16 mm human embryo. 1 Nasal septum: 2 Palatal process; 3 Tongue. (Tonduty. G. (1970). Angewandle und Topographlsche Anatornle, 4th Ed., Stuttgart, Thierne. p. 374.
and without synechiae (Fuhrmann 1972). There have been several observations of syngnathia congenita, but our patient is the first case with dominant transmission. The arrangement of the adhesions is typical for the syngnathia congenita syndrome (synechiae between the ridges, but also for the CPLS syndrome (adhesions between the left part of the bifid uvula and the retrolingual region). Because of this type of transmission and the morphological findings, we assume a connection between syngnathia congenita and the autosomal-dominantly transmitted CPLS syndrome. The different manifestation in the different patients in the family studied by Fuhrmann and in the mother and child of our case could be explained by variable expressivity of this disease (Fuhrmann et al. 1972). This could also explain the absence of the minor
signs of the CPLS syndrome (lower jaw and tongue hypoplasia, short upper lip). Complete penetrance with variable expressivity has also been postulated on the basis of a second observation of the CPLS syndrome without synechiae (Preus et al. 1974). More such observations would be necessary to prove whether these two family observations are really the same inherited disease characterized by variable expressivity, or if they are a heterogeneous hereditary disease-state. Acknowledgments
The authors thank Prof. Dr. med. B. Leiber (Abteilung fur klinische Nosologie und Semiotik am Klinikum der Johann Goethe Universitat, Frankfurt) for his advice and assistance.
244
GADNER, MULLER, ROSSLER, K O F L E R A N D MITTERSTIELER
References
Fuhrmann, W., F. Koch & W. Schweckendiek (1972). Autosomal dominante Vererbung von Gaumenspalte und Synechien zwischen Gaumen und Mundboden oder Zunge. Hum. Genet. 14, 196-203. Hochstetter, F. (1948). cit. Mathis. Mathis, H. (1962). Uber einen Fall von Emahrungsschwierigkeiten bei connataler Syngnathie. Dtsch. Zahnarztl. 2. 17, 1167-1171.
Preus, M., F. C. Fraser & W. Fuhrmann (1974). Cleft palate lateral synechia syndrome without the lateral synechia (CP k LS Syndrome). Teratotogy 9, 135-141. Address: I . Gaszner, M . D . Universitats-Klinik f iir Kinderheilkunde Innsbruck Austria
Familial occurrence of syngnathia congenita syndrome I. GASSNER, W. MULLER,H. ROSSLER,J. KOFLERAND G . MI'ITERSTJELER
Universitats-Klinik fur Kinderheilkunde, Innsbruck, Austria A case of familial occurrence of syngnathia congenita in mother and child is described;
this syndrome has been seen only sporadically until now. Due to the distinct appearance of the intraoral chords - they were situated on both sides between the ridges of the jaw and also between the left half of the bifid uvula and the retrolingual region - a relationship to the autosomal-dominantly transmitted Cleft Palate Lateral Synechiae Syndrome (CPLSSyndrome) is suspected. Complete penetrance with different expressivity may explain the different clinical manifestations of the cases seen up to now and the absence of bifid uvula in the mother of our patient. The probable pathogenesis during embryological development is discussed. Received 31 July, accepted for publication 15 September I978 Key words: Embryological hypothesis; familial occurrence; genetic-clinical findings;
syngnathia congenita syndrome.
Syngnathia congenita syndrome is characterized by atypical congenital adhesions in the buccal cavity. Mouth opening is extremely restricted by connective and epithelial tissue adhesions between the ridges of the upper and lower jaws. These cause nutritional problems in newborn infants. So far, only sporadic cases have been reported. We were able to observe the familial occurrence of the syngnathia congenita syndrome in mother and child. Case Report
The propositus, L.M., was born in 1977. He was the first child of non-consanguineous parents. The mother has had no abortions or stillbirths. She was born with intraoral synechiae which were removed during
the neonatal period. She does not have cleft palate or any dental anomalies. After a normal pregnancy the child was delivered by caesarean section due to breech presentation (weight 3000 g, length 50 cm, head-circumference 35 cm). The child was transferred to the Children's Hospital, Innsbruck because of feeding problems due to the small mouth opening caused by synechiae of the jaws. Clinical examination showed a mature male newborn. T h e most the mouth could be opened was 5 mm between the frontal maxillary and frontal mandibulary ridges. On both sides the lateral ridges were joined by connective and epithelial tissue. There were also synechiae from the buccal side of the ridges t o the buccal mucosa (Fig. 1). The uvula was cleft and the left part was connected to the retro-
0009-9163/79/030241-04 $02.50/0 0 1979 Munksgaard, Copenhagen
242
GAONER, MULLER. RUSSLER, K O F L E R A N D MITTERSTIELER
Dlscusslon
Flg. 1. Syngnathia congenita, as described in text.
lingual region. There were no further abnormalities. The child was fed by tube for the first 10 days. Then the synechiae were severed with scissors under intubation anaesthesia. Afterwards the child was able to open his mouth normally.
Results
The occurrence of syngnathia in mother and child indicates a dominant inheritance which has not previously been seen in the syngnathia congenita syndrome. An unusual feature in our patient compared to other cases was the presence of adhesions between the buccal side of the jaw and mucosa and between the left part of the bifid uvula and the retrolingual region. The clinical picture is different in mother and child.
Congenital lateral synechiae in the mouth occur in the syngnathia congenita syndrome and in the CPLS syndrome (Fuhrmann et al. 1972). The CPLS syndrome is characterized by a combination of cleft palate and symmetrical synechiae between the edges of the cleft and the lateral areas of the tongue and the floor of the mouth. Additional characteristics are moderate hypoplasia of the lower jaw and of the tongue, and a relatively short upper lip. The pathogenesis of the adhesions of both clinical pictures is discussed as follows (Fig. 2). As long as the mouth cavity is cleftformed in the embryo, and the tongue is lying next t o the nasel cavity, the edge of the tectal wall of the upper jaw is almost touching the blastema of the lower jaw with its ridge. The possibilities for the development of the synechiae are twofold: disproportionate growth of the tectal wall and/or excessive proliferation of the epithelial layer of the blastema of the lower jaw. Proof of this speculation is afforded by the observation of synechiae in human embryos made by Hochstetter. H e also suspected that a mesodermal synechia may follow an epithelial one (Hochstetter 1948). Excised jaw-chords of a 2-day-old female newborn showed histologically vascularized connective tissue and bundles of muscle fibres covered with multistratified epithelium (Mathis 1962). The neighbouring embryonic tissues (palate fold, dental ridge, tongue) can be arrested in their normal development by conglutinations. Disturbances of palatal fusion, anomalies of the palatal profile and the uvula, anomalies of dentition, and excess or deficiency of teeth and dysplasia of the tongue can follow. It appears that the synechia is not substantiated as a cause of cleft palate in the CPLS syndrome, since in the same family cleft palate has occurred with
SYNGNATHIA CONGENITA SYNDROME
243
Flg. 2. Photomicrograph of a section through the developing mouth region of a 16 mm human embryo. 1 Nasal septum: 2 Palatal process; 3 Tongue. (Tonduty. G. (1970). Angewandle und Topographlsche Anatornle, 4th Ed., Stuttgart, Thierne. p. 374.
and without synechiae (Fuhrmann 1972). There have been several observations of syngnathia congenita, but our patient is the first case with dominant transmission. The arrangement of the adhesions is typical for the syngnathia congenita syndrome (synechiae between the ridges, but also for the CPLS syndrome (adhesions between the left part of the bifid uvula and the retrolingual region). Because of this type of transmission and the morphological findings, we assume a connection between syngnathia congenita and the autosomal-dominantly transmitted CPLS syndrome. The different manifestation in the different patients in the family studied by Fuhrmann and in the mother and child of our case could be explained by variable expressivity of this disease (Fuhrmann et al. 1972). This could also explain the absence of the minor
signs of the CPLS syndrome (lower jaw and tongue hypoplasia, short upper lip). Complete penetrance with variable expressivity has also been postulated on the basis of a second observation of the CPLS syndrome without synechiae (Preus et al. 1974). More such observations would be necessary to prove whether these two family observations are really the same inherited disease characterized by variable expressivity, or if they are a heterogeneous hereditary disease-state. Acknowledgments
The authors thank Prof. Dr. med. B. Leiber (Abteilung fur klinische Nosologie und Semiotik am Klinikum der Johann Goethe Universitat, Frankfurt) for his advice and assistance.
244
GADNER, MULLER, ROSSLER, K O F L E R A N D MITTERSTIELER
References
Fuhrmann, W., F. Koch & W. Schweckendiek (1972). Autosomal dominante Vererbung von Gaumenspalte und Synechien zwischen Gaumen und Mundboden oder Zunge. Hum. Genet. 14, 196-203. Hochstetter, F. (1948). cit. Mathis. Mathis, H. (1962). Uber einen Fall von Emahrungsschwierigkeiten bei connataler Syngnathie. Dtsch. Zahnarztl. 2. 17, 1167-1171.
Preus, M., F. C. Fraser & W. Fuhrmann (1974). Cleft palate lateral synechia syndrome without the lateral synechia (CP k LS Syndrome). Teratotogy 9, 135-141. Address: I . Gaszner, M . D . Universitats-Klinik f iir Kinderheilkunde Innsbruck Austria
