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The Journal of Craniofacial Surgery Sep 1995Forty-two cases of median lip fissures are reported. The majority of these had earlier been treated conservatively without healing. All cases were corrected by surgery,...
Forty-two cases of median lip fissures are reported. The majority of these had earlier been treated conservatively without healing. All cases were corrected by surgery, the first 10 by excision only, the remaining 32 by excision combined with Z-plasty. In the first group, one total and one partial relapse occurred; in the second group all patients healed uneventfully. Pedigrees were obtained and indicated that a hereditary component in the cause exists. The location of and the resistance to conservative treatment may suggest that these lesions that seem to be due to a weakness in the lip may be very discreet manifestations of the cleft, which, in more severe cases, was classified as no. 30 by Tessier.
Topics: Adult; Cleft Lip; Family Health; Female; Humans; Lip; Male; Middle Aged; Prevalence
PubMed: 9020720
DOI: 10.1097/00001665-199509000-00013 -
The Journal of Urology Nov 1964
Topics: Congenital Abnormalities; Embryology; Infant, Newborn; Intestinal Diseases; Pathology; Surgical Procedures, Operative; Urinary Bladder Diseases
PubMed: 14226477
DOI: 10.1016/S0022-5347(17)63993-4 -
Pediatric Neurology Oct 2016After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of... (Review)
Review
After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression. The telencephalic flexure also contributes to a shift of the hippocampus from a dorsal to a ventral position, the early rostral pole of the hippocampus becoming caudal and dorsal becoming ventral. The occipital horn is the most recent recess of the lateral ventricle, hence most vulnerable to anatomic variations that affect the calcarine fissure. Many major malformations include lack of telencephalic flexure (holoprosencephaly, extreme micrencephaly) or dysplastic Sylvian fissure (lissencephalies, hemimegalencephaly, schizencephaly). Although fissures and sulci are genetically programmed, mechanical forces of growth and volume expansion are proposed to be mainly extrinsic (including ventricles) for fissures and intrinsic for sulci. In fetal hydrocephalus, the telencephalic flexure is less affected because ventricular dilatation occurs later in gestation. Flexures can be detected prenatally by ultrasound and fetal magnetic resonance imaging and should be described neuropathologically in cerebral malformations.
Topics: Cerebral Aqueduct; Holoprosencephaly; Humans; Magnetic Resonance Imaging; Occipital Lobe; Telencephalon
PubMed: 27590993
DOI: 10.1016/j.pediatrneurol.2016.05.005 -
Clinical Genetics Jun 2013The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of... (Review)
Review
The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Genetic Predisposition to Disease; Humans; Mandibulofacial Dysostosis; Phenotype; Syndrome
PubMed: 23565775
DOI: 10.1111/cge.12123 -
Developmental Biology Sep 2012Ocular coloboma is a potentially blinding congenital eye malformation caused by failure of optic fissure closure during early embryogenesis. The optic fissure is a...
Ocular coloboma is a potentially blinding congenital eye malformation caused by failure of optic fissure closure during early embryogenesis. The optic fissure is a ventral groove that forms during optic cup morphogenesis, and through which hyaloid artery and vein enter and leave the developing eye, respectively. After hyaloid artery and vein formation, the optic fissure closes around them. The mechanisms underlying optic fissure closure are poorly understood, and whether and how this process is influenced by hyaloid vessel development is unknown. Here we show that a loss-of-function mutation in lmo2, a gene specifically required for hematopoiesis and vascular development, results in failure of optic fissure closure in zebrafish. Analysis of ocular blood vessels in lmo2 mutants reveals that some vessels are severely dilated, including the hyaloid vein. Remarkably, reducing vessel size leads to rescue of optic fissure phenotype. Our results reveal a new mechanism leading to coloboma, whereby malformed blood vessels interfere with eye morphogenesis.
Topics: Animals; Animals, Genetically Modified; Base Sequence; Coloboma; DNA Primers; Eye; Eye Abnormalities; Gene Expression Regulation, Developmental; LIM Domain Proteins; Mutation; Phenotype; Retinal Vessels; Transcription Factors; Zebrafish; Zebrafish Proteins
PubMed: 22819672
DOI: 10.1016/j.ydbio.2012.06.029 -
Orphanet Journal of Rare Diseases Mar 2009Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face,... (Review)
Review
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.
Topics: Abnormalities, Multiple; Arthrogryposis; Child; Contracture; Cytoskeletal Proteins; Face; Female; Genetic Predisposition to Disease; Genotype; Humans; Muscle, Skeletal; Phenotype; Syndrome; Troponin T
PubMed: 19309503
DOI: 10.1186/1750-1172-4-11 -
Journal Francais D'ophtalmologie Sep 2019Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc... (Review)
Review
Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.
Topics: Coloboma; Eye Abnormalities; Humans; Optic Disk; Optic Nerve
PubMed: 30935696
DOI: 10.1016/j.jfo.2018.09.011 -
The Pan African Medical Journal 2018Congenital ocular colobomas are due to incomplete closure of the fetal fissure during organogenesis. Ocular involvement can be variable ranging from a simple hole in the...
Congenital ocular colobomas are due to incomplete closure of the fetal fissure during organogenesis. Ocular involvement can be variable ranging from a simple hole in the iris to a more severe involvement of the posterior pole (coloboma of the optic nerve, of the choroid, of the retina). We here report the case of a typical isolated bilateral iris coloboma. The study involved a 55-year old woman who discovered a typical inferonasal iris coloboma without involvement of the crystalline or of the posterior pole on ophthalmologic examination.
Topics: Coloboma; Female; Humans; Iris; Iris Diseases
PubMed: 30123404
DOI: 10.11604/pamj.2018.30.1.14505 -
Ultrasound in Obstetrics & Gynecology :... Aug 2019To evaluate Sylvian fissure development by assessing Sylvian fissure angles in fetuses with malformation of cortical development (MCD).
OBJECTIVE
To evaluate Sylvian fissure development by assessing Sylvian fissure angles in fetuses with malformation of cortical development (MCD).
METHODS
This was a retrospective study of 22 fetuses with MCD. Cases with a stored three-dimensional (3D) brain volume acquired at 18 + 0 to 30 + 6 weeks of gestation at an ultrasound-based research clinic between January 2010 and December 2017 were identified through a database. Of the 22 fetuses, seven had an extracranial abnormality, such as cardiac, renal, gastrointestinal and/or digital anomalies, and five had a minor abnormality such as micrognathia, low-set ears and/or single umbilical artery. To confirm the final clinical diagnosis of brain abnormality, postmortem histological findings or prenatal or postnatal magnetic resonance images were used. For measurement of Sylvian fissure angle, an anterior coronal plane of the fetal brain on transvaginal 3D volume multiplanar imaging was visualized as a single image from the three orthogonal views. The right and left Sylvian fissure angles were measured between a horizontal reference line (0°) and a line drawn along the upper side of the respective Sylvian fissure. The Sylvian fissure angle on both sides was plotted on the graphs of the reference ranges for gestational age in weeks.
RESULTS
In 21 (95.5%; 95% CI, 86.8-100.0%) of 22 fetuses with MCD, the Sylvian fissure angle on one or both sides was larger than the 90 percentile of the normal reference. There was one case with apparent focal MCD in the parietal lobe, but the Sylvian fissure angles were normal. A case with apparent unilateral cortical dysplasia and one with apparent unilateral schizencephaly had conspicuous discrepancies between the left and right Sylvian fissure angles. Abnormal genetic test results were obtained in six cases, including four cases with a mutation in a single gene.
CONCLUSIONS
This study has shown that the Sylvian fissures, as defined by the Sylvian fissure angle, have delayed development in most MCD cases prior to the diagnosis of the condition. The Sylvian fissure angle may potentially be a strong indicator for the subsequent development of cortical malformation, before the time point at which the gyri and sulci become obvious on the fetal brain surface. Further research is required to validate these findings. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Autopsy; Brain; Cerebral Cortex; Congenital Abnormalities; Female; Fetal Development; Fetus; Gestational Age; Humans; Imaging, Three-Dimensional; Magnetic Resonance Imaging; Malformations of Cortical Development; Pregnancy; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Reference Values; Retrospective Studies; Ultrasonography, Doppler, Transcranial; Ultrasonography, Prenatal
PubMed: 30381845
DOI: 10.1002/uog.20171 -
Clinical Dysmorphology Jul 1997Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures... (Review)
Review
Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Encephalocele; Eye Abnormalities; Facial Asymmetry; Genes, Recessive; Humans; Infant, Newborn; Male; Nose; Syndrome
PubMed: 9220195
DOI: 10.1097/00019605-199707000-00008