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Roger K Hall - One of the best experts on this subject based on the ideXlab platform.
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Solitary median Maxillary Central Incisor (SMMCI) syndrome
Orphanet Journal of Rare Diseases, 2006Co-Authors: Roger K HallAbstract:Solitary median Maxillary Central Incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal Central Incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the Maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.
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solitary median Maxillary Central Incisor short stature choanal atresia midnasal stenosis smmci syndrome
Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology, 1997Co-Authors: Roger K Hall, Agnes Bankier, Michael J Aldred, Karen Kan, James O Lucas, Graeme A B PerksAbstract:Abstract This article describes a series of 21 consecutive cases, each involving a solitary median Maxillary Central Incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases—solitary median Maxillary Central Incisor, choanal atresia, and holoprosencephaly—is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median Maxillary Central Incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants.
K S Lee - One of the best experts on this subject based on the ideXlab platform.
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solitary Maxillary Central Incisor and congenital nasal pyriform aperture stenosis
European Journal of Pediatrics, 1998Co-Authors: Yannjinn Lee, Shauping Lin, E Y Shen, J K Huang, K S LeeAbstract:Solitary Maxillary Central Incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q).
Anna Verdonck - One of the best experts on this subject based on the ideXlab platform.
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genotypic and phenotypic variation in six patients with solitary median Maxillary Central Incisor syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Simon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, Constantinus Politis, Joris Vermeesch, Isabelle Bailleulforestier, Greet Hens, Koenraad Devriendt, Anna VerdonckAbstract:Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median Maxillary Central Incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median Maxillary Central Incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum. © 2015 Wiley Periodicals, Inc.
Isabelle Bailleulforestier - One of the best experts on this subject based on the ideXlab platform.
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genotypic and phenotypic variation in six patients with solitary median Maxillary Central Incisor syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Simon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, Constantinus Politis, Joris Vermeesch, Isabelle Bailleulforestier, Greet Hens, Koenraad Devriendt, Anna VerdonckAbstract:Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median Maxillary Central Incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median Maxillary Central Incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum. © 2015 Wiley Periodicals, Inc.
Giovanni Neri - One of the best experts on this subject based on the ideXlab platform.
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solitary median Maxillary Central Incisor syndrome clinical case with a novel mutation of sonic hedgehog
American Journal of Medical Genetics Part A, 2004Co-Authors: Livia Garavelli, C Zanacca, G Caselli, Giacomo Banchini, Christele Dubourg, Veronique David, Sylvie Odent, Fiorella Gurrieri, Giovanni NeriAbstract:Solitary median Maxillary Central Incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala.
