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Facies leprosa was characterized by a combination of nasal change and resorption of nasal bone, anterior nasal spine, supra-incisive alveolar region and anterior alveolar process of the maxilae, associated with the loss of upper incisors teeth, according to the criteria of radiographic interpretation.
We report four cases with syndrome of asymmetric crying facies, analyzing particularly the etiology, embryology, and incidence of the congenital hypoplasia of depressor anguli oris muscle. In one of the cases, with multiple malformations, the patient had an abnormal karyotype, 47,XX, +i(18p). We stress the high incidence of associations with congenital malformations (eight fold the general population) and more specifically with congenital heart disease, musculoskeletal, and genito-urinary defects. The diagnosis of MDAO agenesis is basically clinic, being as differential diagnosis the paralysis of the 7th cranial nerve, defining it with electrophysiological techniques.
Fifty-eight patellae and femora of cadaveric knees were studied. Radiological measurement of the osseous projection and cartilaginous projection, aided by contrast medium, revealed several morphological characteristics of the patella and the facies patellaris of the femur as follows. Depth index, facet angle, facet ratio of the patella and median ridge index which indicates position of the median ridge, showed almost the same value as reported by many authors previously. There were configurational rules in the axial view and the lateral view of the patella. Imaging of the configuration of the articular surface of the patella was therefore possible when osseous projection was measured. Regardless of the positioning to take radiograph, depth index and sulcus angle of the trochlea showed almost the same value, but the facet ratio varied considerably. There were good correlations between facet angle of the patella and sulcus angle of the trochlea both in osseous and cartilagenous projections. The depth index and facet ratio, on the other hand, were shown to have correlation in cartilagenous projection only.
The "elfin facies", described by Williams and Beuren, is usually associated, beside mental retardation, with a supravalvular aortic stenosis and, more broadly, with multiple arterial stenoses. Other types of cardiac defects were described in this context, but the case reported by the authors is the first one with a tetralogy of Fallot. The hypothesis of widerspread histodysplastic lesions is discussed: the process may be early enough to alter the morphogenesis of the cardiac conus and to produce, more lately, the classical stenotic lesions of the arterial wall.
Brief study of vaginal populations, the human vagina being considered as a biotopic cavity. Allusion to dynamic aspects ("vaginal climate", "landscapes") and to various bacterial populations. Introduction of the concept of xenoecies and of facies. This study is preceded by essential definitions of terms widely used in ecology.
Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.
Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.
Congenital hypoplasia or absence of the depressor anguli oris muscle is a minor congenital anomaly causing asymmetrical crying facies (ACF). The interesting aspect of this abnormality lies in the frequently associated abnormalities. Cardiac, urogenital, musculoskeletal, respiratory and cervicofacial defects have been described in cases with ACF. Therefore it is suggested that ACF can be used as an index of other congenital malformations. We report three cases with ACF who had varied congenital anormalites.
The Asymmetric Crying Facies (ACF) is included among the congenital facial palsy in childhood. We report the clinical characteristics, congenital anomalies and other associated disorders in sixteen patients with ACF examined from 1984 to 1995 in the pediatric units of the Hospital Adolfo Pons, Universitario and Clínico of Maracaibo, Venezuela. Statistically the side of lesion and the sex were independent. In seven of sixteen patients (43.75%) we found congenital anomalies and/or neurological disorders, being diaphragmatic hernia and the hyperkinesia a rare association no reported up to now in the reviewed literature. We suggest autosomal dominant inheritance with reduced penetrance in three of sixteen families. The other patients were sporadic cases.
We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia of distal phalanges of 2-5th toes, with tiny toenails, and aplasia or nails of 5th fingers and right 5th toe in the younger sister. Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed. The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap. Their clinical picture resembles more the brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome.
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In 1998, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR/MCA syndrome. Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, fat pads at the anteromedial aspect of the heels, and a distinct facial phenotype (high forehead, high anterior hairline, mild midfacial hypoplasia, remarkably narrow and upward slanted palpebral fissures, broad nasal ridge and tip, broad philtrum, bowed upper lip, "pouting" lower lip, full cheeks, and flat occiput). Brain MRI and MR spectroscopy studies showed relatively small frontal lobes, some widening of the lateral and third ventricles, and increased choline levels in the frontal white matter. Cytogenetic studies in lymphocytes and skin fibroblasts and whole genome micro-array CGH failed to show abnormalities. The present patient has a phenotype almost identical to that of the earlier reported children (Pierpont et al. [1998]: Am J Med Genet 75:18-21), which thereby validates this as a separate MR/MCA syndrome, appropriately designated Pierpont syndrome. The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes.
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