SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
We report on a 17 month-old boy with Robinow' syndrome characterized by mild dwarfism, brachymelia, frontal bossing, hypertelorism, upturned nose, gingivodental, vertebral and bone age abnormalities, hypoplastic genitalia with normal gestation, birth weight and length and intelligence. There was an unusual association with idiopathic thrombocytopenic purpura and splenomegaly.
Explore the source record for details and available documents.
Antiphospholipid antibodies have been associated with pregnancy loss. We now present a possible association between antiphospholipid antibodies, recurrent spontaneous abortion and congenital anomalies. L.M. is a 32-year-old woman, gravida 6, para 2023, whose obstetric history includes three spontaneous abortions and two infants with congenital anomalies including kidney atresia and oromandibular hypogenesis. The only normal offspring are twins born after receiving treatment of aspirin 80 mg daily during the pregnancy. Laboratory evaluation revealed the presence of circulating antiphospholipid antibodies. Antiphospholipid antibodies cause endothelial cell activation which has been proposed as a cause of congenital malformations. This case suggests the risk of not only recurrent spontaneous abortion but also congenital anomalies in the offspring of a women with antiphospholipid antibodies. The congenital anomalies are 'regional' and could result from embryonic vascular accidents as a result of antiphospholipid antibody interaction with endothelial cells. The only 'successful' pregnancy was with treatment with aspirin. If the associations illustrated in this obstetric history can be substantiated by population-based studies, it may be concluded that antiphospholipid antibodies are a risk factor for embryo teratogenicity as well as mortality.
Explore the source record for details and available documents.
We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.
Explore the source record for details and available documents.
The oral and dental features of a case of the Saldino-Noonan lethal short rib-polydactyly syndrome (SNS) are described. Natal teeth were noted. The anterior maxillary and mandibular fornices and the central labial frenula were absent. The tongue appeared larger than normal and lacked the sulcus terminalis and the vallate and foliate papillae. The tooth anlagen were abnormal. Microscopic studies revealed small tooth buds, in which hard tissue formation was more advanced than gestational age; abnormalities were noted primarily in the most recently formed dental tissue, indicating that the biochemical defect responsible for this disorder had acted abnormally on dentinogenesis mainly shortly prior to birth. Studies of oral and tooth development should be important to better understanding the abnormal function of the chondrodystrophy genes.
Explore the source record for details and available documents.
2 patients are presented, and the oblique lateral oro-ocular clefts discussed with emphasis on classification, dentition and microforms. A review of the literature revealed 10 patients with oblique lateral oro-ocular facial cleft (no. 5 in Tessier's classification), 3 bilateral and 7 unilateral. 5 unilateral cases had a median oblique facial cleft (no. 4) on the other side. 3 cases had a cleft lip and palate. The site of the alveolar cleft was in the region of the first and second premolar in 2 and slightly posterior to the canine tooth in 3 of 5 reliably documented cases. The dentition was documented only in 1 child with a lateral and median oblique facial cleft, resulting in full permanent dentition. The author's 2 cases had a bilateral oblique lateral oro-ocular facial cleft with the alveolar defect in the region of the first and second premolar. An isolated cleft (no. 6 in Tessier's classification) has to our knowledge not been reported at all. Furthermore, there are transitional forms between Tessier's clefts 5-8. Based upon our observations, it is also evident that variations inside one type occur as well. More attention should be paid to the exact location of the cleft and especially to the skeletal deformity, alveolar site and dentition. This would facilitate both classification and diagnosis of microforms.
Explore the source record for details and available documents.
Oromandibular and limb syndromes feature primarily in sporadic case reports because of their low incidence. They include Moebius syndrome, aglossia-adactylia syndrome, Hanhart syndrome, glossopalatine ankylosis syndrome, limb deficiency-splenogonadal fusion syndrome and Charlie M. syndrome. There is confusion in the classification of these patients because of the associated anomalies and the frequency of overlapping features. This paper presents a patient with oromandibular malformations associated with major defects in the upper and lower limbs. Aglossia in the presence of an intraoral band is a peculiar association demanding classification. This case confirms that aglossia-adactylia syndrome and the glossopalatine ankylosis syndrome are variants along a spectrum.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
An unusual case history is presented in which a 4-year-old Oriental boy, born with multiple congenital defects primarily affecting anatomic structures in the midline, was treated by an oral surgeon, restorative dentist, and others. The defects included cleft palate, two complete and separate tongues, missing and decayed teeth, and an aortic abnormality. Treatment procedures included restoring the teeth, uniting the two tongues, lip repair, and fabrication of an obturator to close the palatal defect.
Hallerman Streif syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nazism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral microphthalmia. Despite the marked craniofacial characteristics and oral findings, a relative lack of reports in the dental literature has been noted. In this article, a case of a 8 year old boy with dental problems is described.
The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described.
A fetus with a severe variant of the agnathia malformation complex (AMC) was delivered following prenatal diagnostic evaluation with ultrasonography. The constellation of anomalies that accompanied the agnathia included holoprosencephaly, hydranencephaly, situs inversus, and polysplenia. Recently, several authors have reported the association between the agnathia, holoprosencephaly, and situs inversus. We present evidence which suggests that, when hydranencephaly is also present, this may represent the most severe variant of the AMC. Our case is presented, the literature is reviewed, and a hypothesis regarding the embryopathologic mechanism is discussed.