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Familial Median Cleft of the Upper and Lower Lips

Central Cleft Lip


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • They usually present as bilateral and symmetric fistulas on either side of the midline of the vermilion of the lower lip. [2] Occasionally only a single pit is present that may be centrally located.[mjmsr.net]
  • The latter can present with a range of other anomalies such as hypodontia, syndactyly and congenital heart defects. 1 Upper lip pits tend to be non-syndromic epigenetic malformations.[casereports.bmj.com]
  • Isolated lip pits with nonfamilial involvement as seen in the present case are sporadic in the literature.[ijdr.in]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • The parents mentioned that they considered it to be a beauty spot and hence never felt the need to get it examined by a physician. There was no relevant family history. The parents were from a low economic stratum.[mjmsr.net]
  • The child’s physician should be responsible for seeking the coordinated use of specialists and for parental counseling and guidance. Buy Membership for Pediatrics Category to continue reading.[clinicalgate.com]
  • Median cleft (Figure 3) was noticed by mother at birth, and her physician had referred the child to us for correction at the age of II months.[jpma.org.pk]
  • Physicians and surgeons have to inform parents that CLP in the absence of other major systemic anomalies is a treatable non-life-threatening condition.[pocketdentistry.com]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.com]
  • Therefore, shortly after birth a feeding specialist (typically a speech pathologist or occupational therapist) is called in to help.[thecraniofacialcenter.com]
  • Our speech and language pathologists work with patients to improve speech after cleft repair surgery. Our speech therapists collaborate with audiologists and ear, nose and throat (ENT) specialists throughout the repair process.[gillettechildrens.org]
  • Cleft teams generally include a craniomaxillofacial surgeon, pediatrician, nurse practitioner, speech pathologist, orthodontist, social worker, and geneticist.[pocketdentistry.com]
  • This coordinated team at minimum should include a pediatrician, a geneticist, an oral-maxillofacial surgeon, a plastic surgeon, an otolaryngologist, an audiologist, a speech pathologist, a pediatric dentist, an orthodontist, a dietitian, and a psychologist[consultant360.com]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.com]
Multiple Congenital Anomalies
  • […] without intellectual disability Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 Multiple congenital anomalies-intellectual[orpha.net]
Lip Swelling
  • In the management of this rare condition, a high index of suspicion is necessary when a patient presents with recurrent upper lip swelling and discharge. Recurrent infections occurred in 25% of the reported cases.[smj.org.sg]
  • Case History A two hour born female was brought with chief complaints of deformity of lips, swelling neck and difficulty in breathing ( Figures 1 and 2 ).[omicsonline.org]
Ear Deformity
  • There may be other associated facial anomalies like cleft of upper lip, cleft palate, Pierre-Robin anomaly, hemifacial microsomia, mucus pits lower lip and dermoid cyst of nose, eye, chin, and ear deformities [ 7 - 9 ].[omicsonline.org]
  • D: There is no association between cleft palate and congenital ear deformities. 2. While assessing a newborn with cleft lip, the nurse would be alert that which of the following will most likely be compromised? A. Sucking ability. B.[nurseslabs.com]
Flexion Contracture
  • Ishii M, Ishii Y, Moriyama T, Enomoto S, Ono T, et al. (2002) Seventeen-year follow-up of a patient with median cleft of the lower lip, mandible, and tongue with flexion contracture: a case report.Cleft Palate Craniofac J 39: 555-559.[omicsonline.org]
Torticollis
  • Malignant epithelial tumor of salivary glands Malignant germ cell tumor of ovary Malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the vagina Malignant hyperthermia-arthrogryposis-torticollis[orpha.net]
Pierre Robin Syndrome
  • Robin syndrome, cleft palate, small open mouth, myopathic facies, retrognathia, prominent nose with squared-off nasal tip UNK Treacle TCOF1 5q32-q33.1 154500 Treacher Collins mandibulofacial dysostosis 154500 AD malar hypoplasia, cleft palate, mandibular[en.wikibooks.org]
  • .  Inherited syndrome • Sticklers (Autosomal dominant) • Treacher Collins (AD) • Van der Woude (AD)  Non-inherited syndrome • Pierre Robin Syndrome – triad of cleft palate, glossoptosis, retrognathia • Goldenhar syndrome 61 *Sommerland BC.[slideshare.net]
  • Robin syndrome, which includes small jaw, U-shaped cleft palate, and glossoptosis.[article.sciencepublishinggroup.com]
Aged Face
  • In support to this hypothesis comes the observation that in the aging or aged face in years well-beyond birth, the locale of these embryonic lateral furrows are possibly demarcated as vertical wrinkles seen on either side of the lower lip midline.[frontiersin.org]
Short Neck
  • neck ENZ Phenylalanine hydroxylase PAH 12q24.1 261600 Phenylketonuria 261600 AR microcephaly, occasional cleft palate, long simple philtrum, thin upper lip, flattened nasal bridge, epicanthus, upturned nose IS Retinoblastoma-1 RB1 13q14.1-q14.2 180200[en.wikibooks.org]
Cesarean Section
  • Her history revealed that she was delivered through a Cesarean section. The maternal history revealed no history of medication or illness during pregnancy.[jorr.org]

Treatment

  • This issue of The Clinic’s brings the current state of the art in cleft treatment to the practicing plastic surgeon, highlighting the changes and ongoing developments in the field.[books.google.com]
  • Orthodontic Treatment for the Cleft Palate Patient.[slideshare.net]
  • Final Stage – Cleft Lip and Cleft Palate Treatment The final stage in the treatment of many patients with cleft lips and palates is the rhinoplasty, or nose surgery.[craniofacialteamtexas.com]
  • […] discuss treatment options with the multidisciplinary team before making a decision.[cleftline.org]

Prognosis

  • Identification of the underlying syndrome is important for prognosis and family counseling; a clinical geneticist, when available, can help guide the evaluation. Click here for Patient Education NOTE: This is the Professional Version.[merckmanuals.com]
  • […] anomalies are lower lip hemangioma, facial anomalies, ankyloglossia, cleft palate, cervical dermoid cyst, hyoid bone agenesis, laryngeal cartilage malformation, epiglottis aplasia, cardiac malformation and chromosomal abnormalities, which further worsen the prognosis[omicsonline.org]
  • Prognosis Both cleft lip and cleft palate are treatable birth defects.[encyclopedia.com]
  • The importance of antenatal diagnosis arises from its association with chromosomal abnormalities and associated anomalies, which can worsen the neonatal prognosis.[degruyter.com]

Etiology

  • The incidence, classification, etiology and embryology of oral clefts. Semin Orthod 1996;2:162-168 19. Formation of clefts 19 20. 20 21. ETIOLOGY 22.[slideshare.net]
  • Embryology Etiology The development of CLP is dependent on the interaction of environmental factors and genetic predisposition Genetic predisposition Family history: multifactorial inheritance pattern ( Mendelian inheritance is rare) An affected parent[amboss.com]
  • They are also called as congenital fistulas or congenital lip pits and they normally disappear by six weeks of embryonic age. [1] The etiology is unknown.[mjmsr.net]
  • We report a case of median cleft of lower lip with ankyloglossia, the etiology; clinical features and treatment are discussed briefly. Case Report A 6-month-old child reported to our unit with a deformity of the lower lip.[jclpca.org]
  • Etiology and Genetic Counseling No distinct etiology of orofacial clefts is known.[consultant360.com]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Epidemiology References: [1] [2] [3] [4] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • American Journal of Epidemiology, vol. 141, supplement 3, 1995. R. Munger, P. Romitti, N.[article.sciencepublishinggroup.com]
  • The epidemiology of each of the 3 orofacial cleft types is described, and parental, genetic, and environmental contributing factors are briefly reviewed.[consultant360.com]
  • Lower lip sinuses: Epidemiology, microforms and transverse sulci. Br J Plast Surg 1981;34:26-30. 7. Coccia CT, Bixler D. Cleft palate and congenital fistulas of the lower lip: Report of a familial occurrence.[ijdvl.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology In embryonic development, the palate closes later than the lip, and the failure to close occurs for different reasons.[nurseslabs.com]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[medicbind.com]
  • Prevention It is necessary to understand genetic and environmental causes of syndromic and non-syndromic OFCs in order to prevent them. Having an understanding of multifactorial a etiology helps direct attention toward prevention.[article.sciencepublishinggroup.com]
  • Surgical management Time of operation – 6-18 month before start of speaking to prevent nasal intonation.[bdmedics.blogspot.com]
  • Genetics, genetic counseling, and prevention. In: Jones KL. Smith’s Recognizable Patterns of Human Malformation. 4th ed. Philadelphia, PA: WB Saunders; 1988:706-727. 21. Centers for Disease Control and Prevention.[consultant360.com]

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