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Results for “MOUTH ABNORMALITIES”

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At least 343 records · Page 19Linked to original sources
PubMed1971

Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.

The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.

Abnormalities, Multiple↗
PubMed1976

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Abnormalities, Multiple↗
PubMed1993

[Clinical evaluation of NK 622 (toremifene citrate) in advanced or recurrent breast cancer--a comparative study by a double blind method with tamoxifen].

Efficacy and safety of NK 622 (toremifene citrate) were compared with tamoxifen (TAM) by a double blind test in patients with advanced or recurrent breast cancer. NK 622 and TAM were given orally for 12 weeks or more at daily doses of 40 and 20 mg/body, respectively. Eligible cases in NK622 and TAM groups were both 57 patients. No significant difference was observed in patient characteristics between either group. Response rates were 26.3% (8 CR and 7 PR, 15/57) in the NK 622 group and 28.1% (3 CR and 13 PR, 16/57) in the TAM group. Median values of duration to onset of CR were 91 days in the NK 622 group and 169 days in the TAM group. The duration was significantly shorter with the NK 622 group. Median duration of efficacy in CR and PR cases was 155 days in the NK 622 group and 154.5 days in the TAM group. Adverse effects were encountered in 7 patients (12.3%) of each of the 2 groups. The side effects were fatigue, hot flush, WBC decrease, abnormal values in liver function tests, etc. in the NK 622 group and anorexia, nausea, eruption, feeling of warmth, sweating, dry mouth, dizziness, abnormal values in liver function tests, etc. in the TAM group. Administration was discontinued in one patient with eruption and another patient with abnormal values of liver function tests in the TAM group, while there was no such case in the NK 622 group. Including the discontinued cases, the side effects were moderate and reversible in both groups. The patients in whom a drug was determined as useful or more numbered 24/57 (42.1%) in the NK 622 group and 23/57 (40.4%) in the TAM group. There was not significant difference between the 2 groups in the above results except the duration to onset of CR. From these results, NK 622 is expected to show comparable efficacy, safety, and usefulness in patients undergoing TAM treatment for advanced or recurrent breast cancer.

Administration, Oral↗
PubMed1993

Otopalatodigital syndrome type II associated with omphalocele: report of three cases.

We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.

Abnormalities, Multiple↗
PubMed1995

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects.

We reported on a Japanese boy similar to the patients previously reported by Malpuech et al. (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects. This is probably the second case report of Malpuech facial clefting syndrome.

Abnormalities, Multiple↗
PubMed1980

Ankyloglossum superius syndrome.

The case of a male infant with the ankyloglossum superius syndrome is documented. In addition to oromandibular and limb malformations, the patient had extensive jejunal and ileal atresia. The cause of this syndrome remains unknown, but both genetic and intrauterine environmental factors have been suggested. There was no family history of other affected relatives, but throughout her pregnancy the mother had received imipramine, diazepam, chlorpromazine, and meclizine.

Abnormalities, Multiple↗
PubMed2006

A novel stent for the treatment of persistent buccopharyngeal membrane.

We describe a new stent design for treatment of persistent buccopharyngeal membrane. The patient is a male child diagnosed at birth with persistent buccopharyngeal membrane, managed in our institution from birth to present age of 2.5 years. We describe to problems and challenges in management for this rare anomaly by means of a custom made polyurethane stent.

Abnormalities, Multiple↗
PubMed2004

MR imaging of fetal head and neck anomalies.

This article describes an approach to imaging of fetal head and neck anomalies. Topics include cleft lip and palate, facial clefts, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchal translucency, cephaloceles, vascular anomalies, and tumors. Some of the more common syndromes are also described.

Cardiovascular Abnormalities↗