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We describe a 2-year-old girl with clinical and radiological findings of Burton skeletal dysplasia. This rare disorder shows some similarities to Kniest dysplasia. Short stature, joint stiffness, microstomia, and pursed lips are characteristic clinical findings. Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings.
We report on a 9-year-old boy with chondrodystrophic myotonia (Schwartz-Jampel syndrome) and the progress of a brother and sister with this syndrome first described in 1969. This is an autosomal recessive trait characterized by mask-like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia, micrognathia, myotonia, muscular hypertrophy, osteochondrodysplasia, and growth retardation. Expressivity varies and in some sibships females are less severely affected than their brothers. The sexual development of the sibs with chondrodystrophic myotonia, who are now in the mid to late second decade, has been normal. Linear growth rate accelerated during puberty but the adult height of the male is less than normal. Administration of human growth hormone had no consistent effect on the growth pattern of this boy.
We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.
We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.
We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome.
The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa (EBDR-I) is a rare variant characterized by lesions involving primarily the flexural areas of the body. The purpose of this investigation was to characterize the oral manifestations of this unusual dermatologic condition. Ten individuals having EBDR-I were evaluated and compared with an age and sex-matched population of unaffected individuals that served as controls. The diagnosis of EBDR-I was confirmed by skin biopsy that demonstrated tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. There was clinical variability in the severity and distribution of skin involvement; however, none of the affected individuals demonstrated pronounced digital webbing, severe generalized blistering or growth retardation characteristic of the Hallopeau-Siemens form of EBDR. Oral involvement was seen in all cases with ankyloglossia, loss of tongue papillae and obliteration of the oral vestibule between the lips and gingiva being typical. The oral opening was significantly reduced in older EBDR-I individuals compared with matched controls, confirming that acquired microstomia is a characteristic of EBDR-I. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. Despite this, the prevalence of dental caries in EBDR-I individuals was significantly higher than the control group. The inversa form of EBDR presents with oral findings that are similar but generally milder than those seen in the Hallopeau-Siemens variant of EBDR.
Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. Ultrasonography at 19 weeks of pregnancy disclosed hypoplasia of the cerebral hemispheres with a large intrahemispheric cyst, as well as dysmorphic facial features and brachy-syndactyly IV-V. Fetal brain MRI confirmed these features and disclosed additional morphological anomalies: Agenesis of the vermis, complete agenesis of the corpus callosum, pachygyria of the left hemisphere. Pathological examination showed a disproportionate fetus with large head and short limbs. Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulated tongue. Radiographs showed distal malformations of the four limbs. Neuropathological examination showed a severe disturbance of the architecture of both hemispheres, more severe on the right side, with four cystic structures located between the hemispheres. Olfactory stalks, mammillary bodies, and midline structures were absent. Cerebellum and brainstem were hypoplastic. On the right hemisphere as on most part of the left one, microscopic findings displayed a complete disruption of the developing mantle with disturbance of the neuronal migration. The present fetus fulfilled the diagnosis of OFD syndrome: Dysmorphic features, cleft palate and lobulate tongue and polysyndactylies of the feet and hands. The cerebral involvement would make it closer to OFD type VI, but brain malformations were far more severe in the present case, with complex and generalized cortical dysgenesis, evoking a disturbance occurring at a very early stage of the embryogenesis.
Although supernumerary marker chromosomes derived from chromosome 15 (SMC(15)) are the most common marker chromosome in humans, ring SMC(15)s are rare. Here we report on a 16-month-old patient who has a ring SMC(15) with two copies of the segment 15p11.1-q14 region. She exhibits hypotonia, developmental delay, speech delay, microstomia, micrognathia, and other mild dysmorphic features. The ring was present in 22% of her peripheral blood lymphocyte cells. FISH study revealed that the ring was derived from chromosome 15, and had neither telomere sequence nor satellite III paracentromeric DNA. It had alpha satellite DNA, and two copies of the segment 15q11.2 to CTD 2125J1 (at 15q14, 2.2 Mbp telomeric of the common breakpoint 5). The ring-containing cells had four copies of 15p11.1-q14. The ring can be described as r(15)(::p11.1 --> q14::q14 --> p11.1::). Southern-blot analysis of the methylation pattern in the PW/AS critical region showed biparental inheritance, and the ring was maternally derived. This patient's phenotype was comparable to ring SMC(15) patients with three copies of the Prader-Willi/Angelman syndrome (PWS/AS) critical region.
The dysgnathia complex (agnathia-otocephaly) (AO) is a lethal malformation that consists of congenital absence of the lower jaw with union or close approximation of the lower ears on the front of the neck, microstomia, and hypoglossia. We present a novel case of agnathia-otocephaly with associated organomegaly and the use of postmortem 3-D computed tomographic rendering.
Craniofacial anomalies were correlated with mutant murine sirenomelia. Ninety-eight newborn sirens from heterozygous matings were examined and analyzed. In the 96 sirens that had intact craniofacial structures, micrognathia was seen in 39% of the sirens, microstomia in 34%, macroglossia in 26%, and cleft palate in 21%. Even when not cleft, the siren palates were narrower and more highly arched than those of nonsiren littermates. The frequency of abnormal craniofacial development was greater in those sirens that were more severely affected caudally. Even though some earlier studies had indicated a preponderance of males, 46 of the 95 sirens with intact pelvic viscera were females. Fifty-three percent of the sirens were monopodal, 35% were apodal, and 11% were dipodal. A penile-like projection on the genital tubercle occurred on 15 apodal sirens and four monopodal sirens; all but three of these sirens were males. Bladder agenesis was seen in 100% of the sirens, anal atresia in 80%, and bilateral renal agenesis in 43%. No siren was found with bilaterally normal kidneys. The srn gene responsible for sirenomelia might either directly affect the embryo at both the caudal and cranial regions or indirectly affect the embryo by producing lateral mechanical compression at both these sites. The srn gene was earlier characterized as autosomal-recessive; our data confirm this. Sirenomelia was found in only 11% of the newborns from crosses of carrier mice in the colony. Analyses of uterine contents at days 12-14 suggest that the srn gene is fully penetrant, but often lethal, during the fetal period.
We present the autopsy report of a liveborn triploid female, born after 36 weeks of gestation, who died at the age of 20 hours. External features were diagnostic: fetal hypoplasia, hypertelorism, microstomia, micro-and retrognathia, preauricular skin tag, low-set ears, and 3-4 syndactylia. All internal organs were hypoplastic. There were atrial and ventricular septal defects. Adrenals and kidneys were fused, the gallbladder was absent, and ovarian hilum cell were found to be hyperplastic. Triploidy, 69xxx, was confirmed cytogenetically. The placenta was hypoplastic and, microscopically, revealed a peculiar type of immaturity, so-called hydatidiform villous hypoplasia, findings which have not been previously reported. We suggest that the generalized fetal and placental hypoplasia and the severe hypoplasia of all internal organs are caused by a proliferative deficiency of the triploid cells. In addition, the nuclear DNA content was determined by cytophotometrically from placental stromal cells and was found to be about 50% above the normal diploid DNA value; i.e., a triploid DNA value was confirmed.
Experiments were carried out to determine the teratogenicity and developmental toxicity of carbon monoxide (CO) in mice fed protein-deficient diets. Pregnant CD-1 mice were fed 27 (control), 16, 8, or 4% protein diets throughout gestation and each group was exposed to 0 (control), 65, 125, 250, or 500 ppm of CO from gestation days 8-18. The CO exposure was continuous except for daily watering, feeding or cage changing. The animals were killed on gestation day 18. Pregnancy status of the dams was examined. Fetuses were examined for gross and skeletal malformations. The percentages of dead or resorbed fetuses and of grossly malformed fetuses per litter were related to the CO exposure levels and inversely related to the dietary protein levels. All levels of CO and 8 or 4% protein diets significantly decreased the fetal weight of normal fetuses. The most commonly seen gross malformations were brachygnathia accompanied by protruding tongue, microstomia, microcephaly, open mouth, or open eyes. Most of the grossly malformed fetuses also had dry, bleached and wrinkled skin. An increased incidence of skull (interparietal or supraoccipital), and jaw (mandible or premaxilla) malformation; wavy ribs and scoliosis of spine; and limb unossifications were observed in the litters of dams fed protein-deficient diet and all levels of CO exposure. Malformed litters in each protein diet were related to CO exposure levels. The data suggest that CO is teratogenic under protein-deficient conditions. Protein deficiency had additive effect on CO teratogenicity and synergistic effect on fetal mortality. Special groups at risk may include cigarette or marijuana smokers and malnourished or undernourished populations.
Agnathia is a rare malformation characterized by the absence of the mandible, microstomia, aplasia or hypoplasia of the tongue, and low-set or medially fused ears. It occurs alone or in combination with a variety of malformations such as holoprosencephaly. All previous cases of the prenatal diagnosis of agnathia have been accompanied with fatal anomalies. We report here the first case of isolated agnathia, which was diagnosed by prenatal sonography at 32 weeks of gestation. In this case, prenatal sonographic examination showed the severe defect of the chin, small opening of the mouth and severe polyhydramnios. There was no sonographic evidence of holoprosencephaly or anomalies in other organ systems. The diagnosis was confirmed postnatally.
The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, short fingers, pedes excavati, dislocation of hips and diabetes insipidis. Both parents have a normal phenotype and karyotype.
The main problem of anaesthesia for necrectomy and grafting is the correct evaluation of blood loss. Intensive monitoring enables one to avoid major complications. One has to have at least two venous lines of large calibre. Loss of volume is substituted by packed erythrocytes, fresh frozen plasma, warm whole blood and crystalloids. No particular type of anaesthesia is to be preferred. One should avoid depolarizing muscle relaxants between 5 to 90 days after the burn. Because of the possibility of microstomia and contractures the anaesthetist should be familiar with the technique of bronchofiberscope intubation.
A 28-year-old woman developed spontaneously a right- sided pneumothorax, the leading clinical symptom of an as yet undiagnosed systemic sclerosis. The diagnosis was confirmed by Raynaud's phenomenon, microstomia, arthralgia, distal oesophageal dysfunction and antinuclear antibodies. Initial treatment with pleural suction was followed by thoracoscopy and segmental pulmonary resection. Spontaneous pneumothorax is a rare complication in patients with systemic sclerosis, most likely caused by the rupture of subpleural cysts.
The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. Three case reports of children with Freeman-Sheldon syndrome are presented. The pathophysiology and anaesthetic problems encountered are discussed.