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What Else to Look for in a Child Born With

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What Else to Look for in a Child Born With What Else To Look for In A Child Born with A Cleft of the Lip and /or Palate HERMINE M. PASHAYAN, M.D. Boston, Massachusetts 02111 The majority of cases of cleft lip and/or palate fall into the category of multifactorial inheritance. Diagnosis is simple and guidelines giving estimates of the risk of recurrence for various situations are available. A few patients with cleft of the lip and/or palate have other structural abnormalities. Accurate diagnosis to outline treatment, predict prog- nosis and give genetic counseling in this latter group may be a problem for the clinician. A guideline to help make a diagnosis is presented in a set of 10 tables. Clinicians and genetic counselors are aware and/or cleft palate as one manifestation. The of the fact that the great majority of patients accurate diagnosis in these cases depends on that present with an isolated cleft of the lip the clinicians knowledge of such syndromes. and/or palate fall into the category of multi- A complete physical examination of the factorial inheritance of a threshold charac- infant with meticulous documentation of both ter-that is many genes, each with a relatively normal and abnormal features add up to very small effect that interact with the environ- specific syndromes. ment to determine whether the developing 2. Chromosomal Aberrations embryo reaches a threshold of abnormality. Patients with the more common trisomies These cases show a strong familial tendency (D, E and G) have very specific recognizable but do not conform to simple mendelian in- facial features associated with other malfor- heritance patterns and there are no demon- mations. Although the diagnosis can only be strable chromosomal aberrations. Diagnosis is confirmed by karyotyping, a high index of simple and for the majority prognosis is very suspicion by a knowledgeable clinician can good. help prepare the parents as well as assist the A relatively small number of patients with medical team in the neonatal unit outline a a cleft of the lip and/or palate are not of the treatment plan based on the expected prog- multifactorial inheritance category. These pa- nosis. Where corrective surgery may be rec- tients usually make up approximately 3% of ommended in certain patients with Down a clinic population (Fraser 1970) and present syndrome with a cleft, it is extremely unlikely with one or more additional structural abnor- that it be considered in a patient with Tri- malities. The majority of these patients have somy E. identifiable syndromes or associations. The 3. Other causes etiological factors in this latter group can be Included in this category are teratogenic classified in one of the following categories: substances such as drugs, alcohol or even heat 1. Major Mutant Genes known to cause congenital malformations in Numerous syndromes with a known men- the exposed fetus. Few drugs have definitely delian inheritance pattern include cleft lip been shown to cause clefts in man, however, it is extremely difficult to detect a drug that will cause a defect in only the cases with a Dr. Pashayan is Professor, Department of Pediatrics susceptible genotype. Also included in this and Director, Cleft Palate Clinic, Tufts-New England Medical Center, Boston, MA 02111. Address editorial group are syndromes that include clefts as a correspondence to Dr. Pashayan at above address. manifestation and are of unknown etiology. 534 Pashayan, CLEFT LIP AND/OR PALATE 55 In this presentation an attempt is made to Retardation Syndrome, Birth Defects, 12(5): 235-238, list syndromes, associations or sequences when 1976. ' Dr ca CHAPELLE, A., MarotEaux, P., Haru, N. and a given abnormality other than a cleft of the CrRaANROTH, G., Une Rare Dysplasie Osseuse Lithale de lip and/or palate is present. The clinician Transmission Recessive Autosomique, Arch. Fr. Pediatr., should find it easy to identify the given syn- 29: 759-170, 1972. ' drome by checking the specific table. Based Donan, M. A., Growth Failure, Cleft Palate, Ectodermal Dysplasia and Apparent Pancreatic Insufficiency. ?A on an accurate diagnosis the timing of surgical New Syndrome, Birth Defects Orig. Art. Ser., 13(3B): treatment, suspected prognosis and genetic 230-231, 1977. counseling can be offered. 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