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We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.
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PMID:Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 1570 24

We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate. Initially, blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected; however, mutation of the FOXL2 gene was not detected. Moreover, the patients' father and paternal grandmother had experienced recurrent episodes of unilateral brachial neuritis and were diagnosed to have hereditary neuralgic amyotrophy (HNA). HNA is a rare, inherited form of brachial neuritis whose phenotypic spectrum may include hypotelorism, cleft palate and other minor dysmorphisms. HNA maps to chromosome 17q25 and is associated with mutations in the SEPT9 gene. After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. Both children were shown to have inherited the paternal SEPT9 mutation. Wider recognition of HNA as a syndromic disorder may facilitate its diagnosis in affected young persons who may not yet have manifested episodes of brachial neuritis.
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PMID:Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. 1849 87

Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown.
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PMID:Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 1855 14

Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the development of the head and limbs. Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal septum, broad great toes, clinodactyly, and syndactyly. We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M. The location of the altered amino acid in the Twist-box of TWIST1, the high conservation of this amino acid between different species, and the phenotype of the child all support a pathogenic role for this novel TWIST1 sequence alteration.
Cleft Palate Craniofac J 2010 May
PMID:Saethre-Chotzen syndrome: a case report. 1986 Apr 90

Klippel-Feil syndrome (KFS) is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement. Occasionally, patients with KFS may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis, facial nerve paralysis, cleft palate, and scoliosis. Although some researchers have documented this syndrome, scant attention has been paid to craniomaxillofacial manifestations and dental treatment of patients with KFS. The objective of this case report was to describe the planning and execution of dental treatment for a 10-year-old male patient with KFS.
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PMID:Dental team management for a patient with Klippel-Feil syndrome: case report. 1988 36

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cleft lip, six cases (10.5%) had isolated cleft palate and 46 cases (80.7%) had both cleft lip and palate. Thirty-seven of 46 cases with cleft lip and palate were unilateral and 20 were bilateral. Eleven of the 57 patients (19.1%) had ocular findings including congenital nasolacrimal duct obstruction (5 patients), ptosis (1 patient), bilateral iris coloboma (1 patient), dermoid tumor (1 patient), vernal conjunctivitis (1 patient), and esophoria (1 patient). Twenty patients (35%) had one or more systemic abnormalities such as motor mental retardation, hearing loss, syndactylia, growth retardation, double urinary tract, vesicoureteral reflux, penile nevus, hypospadias, non-redundant testis, inguinal hernia, mitral valve prolapsus, ventricular septal defect, complete right bundle branch block, and hirsutism. Though not very often, cleft lip and palate patients may have several associated ocular changes, and these patients should also be examined by ophthalmologists.
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PMID:Ocular findings in children with nonsyndromic cleft lip and palate. 1995 Aug 42

Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.
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PMID:c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. 2018 99

We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant.
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PMID:Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems. 2036

Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema. The peculiar face of individuals with Dubowitz syndrome includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and micrognathia. Airway management of such individuals might be difficult due to craniofacial anomalies, such as micrognathia, cleft palate, tooth problems and craniocervical anomalies. In addition, anesthetic management may be complicated by other systemic illnesses. We report the uneventful anesthetic management of a 16-year-old girl with Dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia. We report this case of Dubowitz syndrome with a review of the relevant literature.
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PMID:Anesthesia of a patient with Dubowitz syndrome -A case report-. 3127 51

We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
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PMID:Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. 2134 33


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