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At least 55 records · Page 3Linked to original sources
PubMed2005

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.

Adolescent↗
PubMed2006

Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies.

An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome type VIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.

Age of Onset↗
PubMed2003

Congenital asymmetric crying facies and agenesis of corpus callosum.

Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported, but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although café-au-lait spots have been described in previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental, clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies for detecting brain anomalies in cases with CACF and suspected CNS involvement.

Agenesis of Corpus Callosum↗
PubMed2000

Growth deficiency, mental retardation and unusual facies.

An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis is described. The case is compared with one described by Wiedemann et al. [(1989) Atlas of Clinical Syndromes, 2nd ed. London: Wolfe Publishing pp. 198-199].

Child↗
PubMed2003

Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome.

Mathieu et al., (1993) reported a family in which a male adult and his son were both affected by unusual facies, cleft palate, congenital brevicollis, diaphragmatic hernia, gastro-oesophageal reflux, and cervical vertebral fusion. Since then, to our knowledge, no other similar cases have been reported. Here we describe a girl presenting with facial features similar to the Mathieu's patients. The association of cervical vertebral fusion, diaphragmatic hernia, and severe gastro-oesophageal reflux seems to confirm this syndrome.

Child↗
PubMed2005

Neonatal asymmetric crying facies: a new look at an old problem.

Neonatal asymmetric crying facies, described 75 years ago, is a clinical phenotype resembling unilateral partial peripheral facial nerve paralysis, with an incidence of approximately 1 per 160 live births. The cause is either facial nerve compression or faulty facial muscle and/or nerve development. Spontaneous resolution is expected with the former, but not necessarily with the latter etiology. Approximately 10% of the developmental cases have associated major malformations. Mandibular asymmetry and maxillary-mandibular asynclitism (non-parallelism of the gums) are frequently overlooked visual clues to nerve compression. Ultrasound imaging of facial muscles and electrodiagnostic testing may be useful for differential diagnosis and management.

Crying↗
PubMed1999

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identical to individuals having 'Cooks syndrome'.

Child↗
PubMed2000

An unusual cutaneous T cell lymphoma presenting as leonine facies.

We report an unusual case of a cutaneous T cell lymphoma with the clinical picture of leonine facies as the only skin symptom appearing during the first years of the disease. Small atypical lymphocytes with partly pleomorphic, partly indented cerebriform nuclei are present in the facial skin as well as in the peripheral blood and in the bone marrow. The lymphoma shows an indolent clinical behaviour without rapid progression of the disease. It shares features with both pleomorphic small/medium-sized T cell lymphoma and mycosis fungoides, but cannot be classified according to the criteria of the European Organization for Research and Treatment of Cancer (EORTC) Classification for Primary Cutaneous Lymphomas. At present the lymphoma has to be ranged among the group of so-called unspecified peripheral T cell lymphomas according to the proposal of the International Lymphoma Study Group.

Biopsy↗
PubMed2004

Cutaneous sarcoidosis presenting as leonine facies.

Cutaneous sarcoidosis often masquerades as many other disease entities. We describe the case of a 56-year-old African American man with a 1-year history of progressively enlarging nodules and plaques of the face resulting in a leonine appearance and madarosis. The diagnosis of cutaneous sarcoidosis was made after skin biopsy results revealed noncaseating granulomas without evidence of foreign body, mycobacteria, or deep fungal infection. A thorough systemic workup was void of other comorbidities. The reports of tumoral sarcoidosis or sarcoidosis presenting with leonine facies are rare, and those cases that have been reported have been linked to other systemic findings.

Adrenal Cortex Hormones↗
PubMed1997

Two patients with asymmetric crying facies, normal cardiovascular systems and deletion of chromosome 22q11.

We report two unrelated patients with Asymmetric Crying Facies (ACF) and 22q11 deletion. In the first case ACF was the presenting feature. Fluorescent In Situ Hybridization (FISH) revealed 22q11 deletion and subsequent echocardiography demonstrated a normal cardiovascular system. The second presented with hypoparathyroidism, shown on FISH to be secondary to 22q11 deletion. Echocardiography was normal and ACF was found incidentally. Deletion of 22q11 has been reported with ACF occurring as part of the Cardiofacial syndrome (CFS) [Giannotti A, Mingarelli R, (1994): Am J Med Genet 53: 303-304] but this is the first report of ACF with 22q11 deletion in the absence of cardiac abnormalities. A review of the literature pertaining to ACF is presented.

Cardiovascular System↗
PubMed1975

Bartter syndrome. Typical facies and normal plasma volume.

Two girls with hypokalemic and hypochloremic metabolic alkalosis and failure to thrive were found to have Bartter syndrome at ages 9 and 6 months. Both had normal blood pressures despite substantial elevation of plasma renin activity and evidence of secondary hyperaldosteronism. A similarity in facial features, including prominent forhead, a large head, triangular facies with drooping mouth, and large eyes and pinnae, was noted in these two infants and in published pictures of other infants with the syndrome. Although the normotension associated with substanital elevation of plasma renin activity and hyperaldosteronism in Bartter syndrome has been considered the effect of hypovolemia, a normal or slightly elevated plasma volume was found in these infants, suggesting that in certain cases an alternate mechanism for the depressed response to renin may be present.

Bartter Syndrome↗
PubMed1988

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.

A complex balanced three-break-point rearrangement between chromosome 2 and chromosome 7 and a balanced reciprocal translocation between chromosome 5 and chromosome 20, were found associated in a girl and in her mother and grandmother. All three of them have microcephaly, low stature, peculiar asymmetric facies and slight mental retardation. We postulate that one (or more) of the five chromosome break-points disrupted one (or more) gene, leading to the expression of the syndrome and to its segregation with the chromosome rearrangement in three generation. Our finding confirms the efficiency of balanced translocations for gene mapping, althought it has led only to the exclusion mapping of all chromosomes except 2, 5, 7 and 20.

Abnormalities, Multiple↗
PubMed1978

Femoral hypoplasia-unusual facies syndrome, from another viewpoint.

A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.

Abnormalities, Multiple↗