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At least 217 records · Page 12Linked to original sources
PubMed1993

Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome?

Two nonrelated, moderately mentally retarded girls are described with identical clinical signs and symptoms, i.e. brachycephaly, typical facies with thin lips and microstomia, ectomorphic habitus with extreme long, thin fingers and toes and hypoplastic external genitalia. The clinical findings in the present patients allow for the delineation of a new MCA/MR syndrome.

Abnormalities, Multiple↗
PubMed1995

Familial bilateral blepharoptosis and subvalvular aortic stenosis.

A boy and his mother with bilateral congenital blepharoptosis, downslanting palpebral fissures, hypertelorism, microcephaly, short nose with flattened nasal root, microstomia, prominent lateral palatine ridges, bifid (boy) hypoplastic (mother) uvula, generalized dental caries, short neck, peculiar voice and mild conductive deafness are reported. The boy had subvalvular aortic stenosis. The mother had pectus excavatum but not any signs or symptoms of cardiovascular defect.

Abnormalities, Multiple↗
PubMed1997

Identical twins with the classical form of Schwartz-Jampel syndrome.

The Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait. The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature. This report concerns a pair of female monozygotic twins with Schwartz-Jampel syndrome. Minor physical differences were found in the toes and joints affected. Additionally, both showed severe microcephaly and previously undescribed X-ray manifestations: a small skull, disproportion between skull and facial structures and dysharmonic bone maturation. This is the first report of identical twins with this syndrome.

Bone and Bones↗
PubMedDate not supplied

Hallermann-Streiff syndrome: airway problems during anaesthesia.

In the patients with Hallermann-Streiff Syndrome, presence of mandibular hypoplasia and microstomia results in difficult intubation. The anaesthetic management of a three month old child with this syndrome for lensectomy is presented in this report. There was difficulty in maintaining the airway patency during induction which was solved with the help of a modified, improvised airway. Intubation was done after induction with a combination of inhalational and intravenous anaesthetic agents and muscle relaxant. Recognition of this syndrome should alert the physician to the possibility of difficulty in airway maintenance.

Anesthesia, General↗
PubMedDate not supplied

Mobius syndrome and limb abnormalities.

Most ophthalmologists are aware of the cranial nerve dysfunctions that have been associated with the facial diplegias of Mobius syndrome. However, many are not aware of the combined limb deficiencies and cranial nerve dysfunctions. Limb malformations have been associated with a spectrum of oral facial anomalies consisting of micrognathia, hypoglossia, microstomia, hypodontia, oral bands, and dysarthria. It has been suggested that the differences which exists between these entities may in fact represent a common etiology. The variability may be related to an intrauterine insult at slightly different times. The oral-facial anomalies associated with absence of limbs or of limb anomalies suggests a correlation between the limbs and the first visceral arch possibly within the second month of gestation.

Abnormalities, Multiple↗
PubMed1998

Partial trisomy 1q with growth hormone deficiency and normal intelligence.

We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. Karyotype was 46,XX,der(4)ins(4;1) (p14;q31.1q32.1)pat. The father had a balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins(4;1)(p14;q31.1q32.1). At age 5 years, patient 1 was found to have short stature with documented growth hormone deficiency and ectopic pituitary. Her growth velocity responded well to treatment with growth hormone. Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intrauterine growth retardation. He has the same chromosomal insertion as his sister, with partial trisomy 1q. We suggest that there is a recognizable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals.

Child, Preschool↗
PubMed1998

[Extensive intraoral cicatrization treated by microsurgery].

Extensive intra-oral burns are very rare injuries. The microstomia resulting from the advanced cicatrization of the mucosa makes it difficult for the patient to eat and impossible to take care of his teeth. The traditional operation for widening the oral orifice was not sufficient because of the extensive scarring of the bucca. In the first operation the authors substituted the mucosa of the lip and the bucca of one side with splitted jejunum. Because of the advancing scarring another operation was performed and the mucosa of the other side of the bucca and the angle of mouth was substituted with a forearm graft.

Adult↗
PubMed1989

Otolaryngologic findings in whistling face syndrome.

Craniocarpotarsal dysplasia or whistling face syndrome is rare with only 60 cases having been reported in the literature. More than 60 anatomic anomalies of the head, hands, and feet, in addition to the face, have been noted. Although the literature contains numerous case reports describing in detail the various features and abnormalities of the syndrome, the otolaryngologic findings in these patients have yet to be summarized. We present two additional cases in a mother and daughter with an extended follow-up period of 30 and 17 years, respectively, and summarize the otolaryngologic findings in all previously reported cases of this rare syndrome. Also, the principal clinical features and associated features are described.

Abnormalities, Multiple↗
PubMed1999

Auriculo-condylar syndrome: further evidence for a new disorder.

We report on a patient born to normal and nonconsanguineous parents and presenting with strikingly malformed ears, abnormalities of the condyle of the mandible, micrognathia, small mouth, and cleft uvula. The similarity of our patient with those reported previously by Jampol et al. [1998: Am. J. Med. Genet. 75:449-452] led us to suggest that they have the same condition.

Child, Preschool↗
PubMed1987

Neonatal manifestations of Schwartz-Jampel syndrome.

Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.

Electromyography↗
PubMed2002

Morphometric analyses of the mandible in prepubertal craniofacial microsomia patients treated with an inverted-L osteotomy.

To analyze changes in mandibular form associated with an inverted-L osteotomy and autogenous bone graft, preoperative, early postoperative (EPO), and late postoperative (LPO) lateral cephalographs of 14 children (mean age approximately 9 years) with unilateral craniofacial microsomia (CFM) were scanned and nine mandibular landmarks digitized. Average mandibular geometries, scaled to an equivalent size, were generated using Procrustes superimposition. Cephalometry, Euclidean distance matrix analysis (EDMA), and thin-plate spline (TPS) analyses were carried out on mean mandibular configurations. Cephalometric results showed increases in oblique mandibular length (approximately 9% on average, P < 0.05) and increased ramus height (P < 0.05). Similarly, using EDMA there were also significant differences (P < 0.05) between the mean preoperative, EPO, and LPO configurations. The most demonstrable EPO change in the mandibular configuration using EDMA was increased oblique length (approximately 11%). This improvement depended on ramus oblique lengths increasing by approximately 26%, ramus height increasing by approximately 25%, and mandibular body length increasing by approximately 5%. For TPS analysis, affine and nonaffine changes contributed to the total spline. In all three comparisons the affine transformation showed an antero-inferior rotation of the mandibular configuration. For nonaffine changes the EPO configuration indicated a supero-inferior stretch of the mandibular configuration. The nonaffine LPO changes maintained the supero-inferior stretch of the mandibular configuration. It is concluded that improvements in the lateral facial profile of CFM patients can be achieved using an inverted-L osteotomy, with little relapse approximately 2 years postoperatively.

Age Factors↗
PubMed1992

Oral commissure expansion prosthesis.

An expansion prosthesis to stretch commissures and fibrotic muscles is often essential for patients recovering from head and neck trauma or burns. The prosthesis is easily made in one appointment using Triad resin and a 7 mm expansion screw. Depending on the frequency of use, varying degrees of opening of the jaws can be obtained. The prosthesis is inexpensive to make and can easily be modified as needed. It is convenient for use because the patient controls the pressure that is applied by the prosthesis.

Equipment Design↗