Cleft lip and palate: developmental abnormalities of the face, mouth and jaws
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie in Bailey & Love's Short Practice of Surgery, 2018
Van der Meulen and his colleagues proposed a classification that has significant utility in helping to understand the variety and complexity of craniofacial malformations. This classification considered the embryological development of the craniofacial region firstly in terms of the formation and fusion of the processes (branchial arches) - the failure of the fusion of these processes leading to clefting disorders, thus the failure of fusion between the frontonasal process and the maxillary process resulting in a cleft lip, either unilaterally or bilaterally; secondly in relation to the formation of bone and cartilage. If this is abnormal, it is termed dysostosis or dyschondrosis; and thirdly in relation to the formation and growth at the sutures between the various bones of the craniofacial skeleton - premature fusion leading to synostosis. Superimposed on this concept is the consideration of the development of the central nervous system. This leads to a number of types of abnormality, as outlined in Table1.
The cases
Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young in Paediatric Radiology for MRCPCH and FRCR, 2020
Absent radius is associated with: — Thromboctyopenia–Absent Radius (TAR) syndrome.— Fanconi’s anaemia.— Holt-Oram syndrome.— Vertebral abnormalities, Anal atresia, TracheoEsophageal fistula, Renal or Limb abnormalities (VATER)/VACTERL.— Acrofacial dysostosis.— Thalidomide embryopathy.
Fucosidosis
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
In the more indolent disease [7, 14] the first sign may be the development of angiokeratomas (Figure 95.5), which may be present as early as six months to four years. By 20 years of age they are seen in 85 percent of patients [7]. They are prominent over the buttocks and genitalia and are indistinguishable from those of Fabry disease (Chapter 87). Red streaks may be noted on the gingivae even earlier, and may be perpendicular to the roots of the teeth. There may be tortuosity of conjunctival vessels [15]. Pigmentary retinopathy has been observed [15]. The skin may appear thickened or dry and thin [6]. With time, facial features become coarse, and the eyelids may be puffy. These patients may have normal sweat chloride concentrations, but they may have hypohidrosis, or difficulty controlling body temperature [6]. Hepatosplenomegaly is not characteristic. Mental deterioration is slower, and patients may live to adult life. Neurologic features include a stiff broad-based gait, spasticity, increased deep tendon reflexes, and positive Babinski responses. Some patients have seizures. One patient had rapidly progressive dystonia [16]. Hearing loss has been observed [7]. Stature is reduced, but head circumference is normal [7]. The skeletal abnormalities are those of a dysostosis multiplex, which may be milder [14, 17]. The spine, pelvis, and hips may be the most affected. Vertebral bodies are flattened and beaked, and there may be odontoid hypoplasia. There may be clinical kyphoscoliosis. Coxa valga is associated with flattening of the femoral heads and widened, scalloped, sclerotic acetabula. Shafts of the long bones may be wide. Neuroimaging reveals changes in the thalamus, globus pallidus, and internal capsule [18, 19].
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Yu Su, Shasha Huang, Bo Gao, Dejun Zhang, Xiaobin Wang, Qin Gao, Hong Pang, Yan Zhao, Yongyi Yuan, Pu Dai
Treacher Collins syndrome (TCS, OMIM 154500) occurs in the general population at an estimated incidence of 1/50,000 live births [1]. TCS was first defined in 1900 by the English ophthalmologist Edward Treacher Collins, after whom it is named. TCS involves craniofacial dysostosis, particularly of the first and second branchial arches. It is generally characterized by zygomatic complex hypoplasia, mandibular micrognathia with retrognathia, and a prominent nose, which causes a unique “bird-like” face. Other basic features of TCS include coloboma of the lower eyelids, downslanting palpebral fissures, sparse eyelashes, cleft lip, and malformation of the external or middle ear resulting in conductive hearing loss.
Related Knowledge Centers
- Bone
- Synostosis
- Ossification
- Joint
- Crouzon Syndrome
- Klippel–Feil Syndrome
- Rubinstein–Taybi Syndrome
- Osteochondrodysplasia