Hands and Heads : Recording and classifi cation of congenital anomalies of the upper limb and common oral clefts

The birth of a child is a tremendous event for the newborn, its parents, and surroundings. Usually, the pregnancy and labour are uneventful and the baby is healthy. The parents are utmost delighted. Shortly, the baby is laid on the chest of the mother for bonding between mother and child, and breastfeeding already starts, if desired. Family and friends come to see the most beautiful baby in the world. Soon, he opens his eyes, senses the environment, and he tries to grasp everything he can get his hands on and tries to put it in his mouth. Some time later he puts on a big smile, and begins talking in a totally unintelligible language. The grasping of things becomes more accurate, and he can pick up smaller objects. In time he raises himself, and begins to crawl, exploring the world, and before you know it he takes his fi rst steps, unsteadily balancing his body on his legs, grasping any object around him for stability. In time language progresses in words and sentences the rest of the world can also understand

Subphenotyping and Classification of Cleft Lip and Alveolus in Adult Unoperated Patients: A New Embryological Approach.

Item does not contain fulltextOBJECTIVE: Previously, a new embryological classification was introduced subdividing oral clefts into fusion and/or differentiation defects. This subdivision was used to classify all subphenotypes of cleft lip with or without alveolus (CL+/-A). Subsequently, it was investigated whether further morphological grading of incomplete CLs is clinically relevant, and which alveolar part is deficient in fusion/differentiation defects. DESIGN: Observational cohort study. SETTING: Three hundred fifty adult unoperated Indonesian cleft patients presented themselves for operation. Cephalograms, dental casts, and intraoral and extraoral photographs-eligible for the present study-were used to determine morphological severity of CL+/-A. PATIENTS: Patients with unilateral or bilateral clefts of the primary palate only were included. MAIN OUTCOME MEASURES: Clefts were classified-according to developmental mechanisms and timing in embryogenesis-as fusion and/or differentiation defects. Grades of incomplete CLs were related to the severity of alveolar clefts (CAs) and hypoplasia, and permanent dentition was used to investigate which alveolar part is deficient in fusion/differentiation defects. RESULTS: One hundred eight adult patients were included. All subphenotypes-96 unilateral and 12 bilateral clefts-could be classified into differentiation (79%), fusion (17%), fusion-differentiation (2%), or fusion and differentiation (2%) defects. The various grades of incomplete CLs were related to associated CAs and hypoplasia, and all alveolar deformities were located in the premaxillae. CONCLUSIONS: This study showed that all CL+/-A including the Simonart bands can be classified, that further morphological grading of incomplete CLs is clinically relevant, and that the premaxilla forms the deficient part in alveolar deformities.1 oktober 201

Validation of the Dutch registry of common oral clefts: Quality of recording specific oral cleft features

Objective: Since 1997, common oral clefts in the Netherlands have been recorded in the national oral cleft registry using a unique descriptive recording system. This study validates data on the topographic-anatomical structure, morphology, and side of individual anomalies of the primary palate and secondary palate that form the oral cleft. Design: Validation study. Setting: All 15 Dutch cleft palate teams reporting presurgery oral cleft patients to the national registry. Patients: A random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 cases were excluded. Main Outcome Measures: By linking registry data with clinical data, we identified differential recording rates by comparing the prevalence, and we measured the degree of agreement by computing validity and reliability statistics. Results: The topographic-anatomical structures (lip, alveolus, and hard and soft palates) of the anomalies had near-perfect interdatabase agreement with a sensitivity of 88% to 99%. However, when analyzing the individual anomalies in detail (morphology and side), validity decreased and depended on morphological severity. This association was most evident for anomalies of the secondary palate. For example, sensitivity was higher for ''complete cleft hard palate'' (92%) than for ''submucous cleft hard/soft palate'' (69%). Conclusions: Overall, the validity of Dutch registry data on oral clefts is good, supporting the feasibility of this unique recording system. However, when analyzing oral cleft data in detail, the quality appears to be related to anatomical location and morphological severity. This might have implications for etiologic research based on registry data and for guidelines on neonatal examination