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Asymmetric crying facies is a common neonatal problem with multiple causes. Asymmetric crying facies occurred in a newborn, secondary to familial hypoplasia of the anguli oris depressor muscle. The differential diagnosis of asymmetric crying facies should include this genetic cause.
A patient with multiple exostoses, mental retardation, and unusual facies has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del (8) (pter leads to q22::q24.1 leads to qter). She has some features of the Langer-Giedion syndrome, but her facies are not characteristic and she does not have cone-shaped phalangeal epiphyses. Of the eight previous reports of partial deletion of the long arm of chromosome 8, four patients had exostoses and unusual facies, three of whom had characteristics of the Langer-Gieldion syndrome. The deleted segments in the patients with exostoses are not identical, although there are areas of deletion that are seen in more than one patient. Among the explanations of the relationship of the 8q deletions to exostoses is the presence of several loci on 8q that are involved in bone formation, the deletion of any of which may give rise to a similar skeletal defect.
In 30 human acetabula the osseous facies lunata was examined and measured. It was found that the acetabular notch is inclined ventrally against the vertical line for an amount of 18,3 degrees (mean value). It was further found that the widest region of the facies lunata is not situated in the acetabular roof (which is usually visible in X-ray photographs), but about 15 degrees in front of it. The outer margin of the osseous acetabulum corresponds to a parallel of latitude of 11,5 degrees, that means that it is situated distinctly above the equator. The cornu anterius is always narrower than the cornu posterius; the similarity between the sockets examined was so great, that a division into different types did not seem to be necessary and an "average acetabulum" was calculated. The width of the facies lunata is interpreted as an equivalent for the amount of stress brought upon; now and then existing indentations of subdivisions of the joint surface are correspondingly understood as places of reduced stress.
BACKGROUND: We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous system changes were present in the family. We performed a whole genome scan in this family in order to identify the gene locus for this malformation syndrome. METHODS AND RESULTS: Using homozygosity mapping, we show linkage to the telomeric region of the long arm of chromosome 15. The position of both the disease gene and the principal glycoprotein, chondroitin sulphate proteoglycan (aggrecan, AGC1) on chromosome 15q26, suggested that the aggrecan gene is a candidate for the disease in this family. However, three of the four affected children were heterozygous for a polymorphism at position 831 of the coding sequence of AGC1, providing strong evidence against its involvement. CONCLUSION: We have identified a gene locus for a recessive syndrome of macrocephaly, MED, and distinctive facies in a large Omani family. Aggrecan located on chromosome 15q26, within the critical region determined for this syndrome in this family, was excluded as a candidate gene.
Acute leukaemia may rarely present as diffuse papules, nodules and plaques forming leonine facies. Leukaemia cutis generally carries a poor prognosis, and responds less well to chemotherapy. We described a case of acute myelomonocytic leukaemia presenting as leonine facies as a result of extensive cutaneous infiltration. The patient did not achieve haematological remission following standard induction chemotherapy and succumbed 6 weeks after the diagnosis was made.
A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.
A variable degree of facial and oral clefting segregating with the characteristic facies, wide set prominent eyes, a broad nasal tip, and protruding external ears is described in several individuals spread over four generations in a British family and over two generations in a Spanish family. None of the affected individuals have any other developmental anomaly. The occurrence of oral and facial clefting associated with prominent eyes and characteristic facies probably indicates the existence of a distinct autosomal dominant syndrome.
The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
We report the presence of pulmonary artery sling in a 4-year-old girl with the Williams elfin facies syndrome. A history of heavy and persistent wheezing during the first few months of life, associated with the current presentation of heart murmur and pulmonary stenosis, led us to investigate the presence of pulmonary artery sling. Both pulmonary artery sling and cardiovascular anomalies in Williams elfin facies syndrome have previously been linked to developmental anomalies of the 6th aortic arch. This appears to be the second reported case of this rare combination of anomalies.
Evaluation of 19 patients with the Williams elfin facies syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that "infantile hypercalcemia, peculiar facies, supravalvular aortic stenosis" designation which was heretofore used is inappropriate. Only 32% of the patients have evidence of supravalvular aortic stenosis and not one of them has had documented hypercalcemia, including eight patients who had a serum calcium determination in the first year of life. Rather, the most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, a depressed nasal bridge with anteverted nares, and thick lips. The disorder is a sporadic occurrence of unknown etiology.
Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system, less frequently involving the genitourinary, musculoskeletal, cervicofacial, and respiratory systems, and rarely the endocrine system. We report a newborn with a collodion membrane and asymmetric crying facies. To the best of our knowledge, this association has not been previously published.
The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia. It is felt to be sporadic in nature. An affected father and daughter are described, implying dominant inheritance.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip. Inferiorly placed kidneys and a septated urinary bladder have also been reported, along with cardiovascular and gastrointestinal abnormalities such as esophageal reflux. The cause and pathogenesis are believed to be multifactorial and probably not inherited. We report the case of a newborn infant with visceral abnormalities not previously recognized in this complex: polysplenia, superiorly placed adrenals at the muscular diaphragms, a single pelvic kidney located in the uterosacral ligament, and anorectal agenesis with the colon ending in a blind pouch above the uterus.
A 5 1/2 month old female child presented with cyanosis and recurrent respiratory infection. Asymmetric facies was noticed on crying. On investigation an ostium secundum atrial septal defect with right partial anomalous pulmonary venous connection and severe pulmonary hypertension was detected. The association of asymmetric crying facies with congenital cardiac anomalies, known as cardiofacial syndrome, is presented here to highlight the use of this clinical sign as a marker to congenital anomalies.
Williams (Elfin Facies) syndrome is a rare, devastating, sporadic disorder first described in 1961. Approximately 100 cases have been reported in the literature. The disorder is characterized by multiple anomalies including mental deficiency, an unusual (elfin) facies, supravalvular aortic stenosis, prenatal and postnatal growth deficiency, infantile hypercalcemia, a small mandible, and frequent dental problems. Because of these anomalies, the dentist contributes significantly to the successful management of these patients. Infant dental care, nutrition counseling, and restorative care are extremely important for maximizing the quality of life for patients with Williams syndrome. A review of the literature and the successful management of a patient with Williams syndrome are presented.
The association of mental deficiency, macroorchidism, and a fragile site on chromosome X [fra (X)(q28) is reported in a 13-year-old boy who also exhibits a peculiar facies reminescent of trisomy 8. This particular facies is considered part of the clinical syndrome associated with the fra(X)(q28). The fra(X)(q28) was not found in the mother nor in two normal sibs of the propositus. The significance of the marker is discussed in view of two hypotheses, close linkage between pathological gene(s) and the fra(X)(q28) and faulty transcription of the gene(s) beyond the tra(X)(q28).
We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.