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Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
One advantage of the Washington Criteria is the attempt to define the facial phenotype of FAS in an objective manner. Astley and Clarren (9) have created a pictorial “lip/philtrum guide” to aid in the objective assessment of the structure of the upper lip and philtrum (Fig. 3). This guide depicts five categories, ranging from normal to those observed in classical FAS. In order to use the guide for the diagnosis of FAS, the upper lip thinness and the philtrum smoothness are assessed separately by comparing the patient’s face to the guide. A rank of 1 is considered completely normal while a rank of 5 is most suggestive of FAS. Medical practitioners who evaluate patients with in utero exposure to alcohol should be encouraged to use this objective lip/philtrum guide even if they do not employ the full diagnostic system proposed by Astley and Clarren.
Classification and clinical features
Published in Aparna Palit, Arun C. Inamadar, Systemic Sclerosis, 2019
Aparna Palit, Arun C. Inamadar
The transverse diameter of the anterior nose, which is normally a pyramidal structure, is reduced and gives rise to a “pinched” appearance (Figure 3.11). The anterior nares become oblong and narrow, rather than the usual triangular shape. The tip of the nose is pointed forwards, which gives rise to a beaked appearance; better appreciable in side-profile (Figure 3.12). The normal concave contour of the philtrum is effaced giving rise to a flat area between columella of the nose and vermillion border of the upper lip (Figure 3.13).
Mouth and throat, face, and the five senses
Published in Frank J. Dye, Human Life Before Birth, 2019
In the morphogenesis of the face, the nasomedial processes and the maxillary processes come together and fuse to form the upper jaw (maxilla), while the mandibular processes come together and fuse in the midline to form the lower jaw (mandible) (see Figure 17.2). More specifically, the fused nasomedial processes give rise to the center (premaxillary) portion of the maxilla, and the maxillary processes give rise to the balance of the upper jaw. Subsequently, the premaxillary portion gives rise to the external philtrum (the depression on the surface of the upper lip immediately beneath the nose) of the lip, the incisor teeth, and the median palatine process. The balance of the maxilla gives rise to the rest of the upper lip, the rest of the upper teeth, and the paired lateral palatine processes. The mandible gives rise to the external lower lip and the lower teeth. In both the upper and lower jaws, a thickening of ectoderm (the labiogingival lamina) grows down into the underlying mesenchyme, then degenerates, forming the deep labiogingival groove that separates the lips from the gums.
Multifaceted case management during pregnancy is associated with better child outcomes and less fetal alcohol syndrome
Published in Annals of Medicine, 2023
Philip A. May, Anna-Susan Marais, Wendy O. Kalberg, Marlene M. de Vries, David Buckley, Julie M. Hasken, Cudore L. Snell, Ronel Barnard Röhrs, Dixie M. Hedrick, Heidre Bezuidenhout, Lise Anthonissen, Erine Bröcker, Luther K. Robinson, Melanie A. Manning, H. Eugene Hoyme, Soraya Seedat, Charles D. H. Parry
Table 4 presents physical trait data for specific FASD diagnoses (FAS, PFAS, and ARND) for children of maternal groups at five years of age. Of the 41 women completing MCM, 27 (65.9%) of their offspring received specific FASD diagnoses, and 14 (34.1%) did not. Children of MCM participants with FAS had a significantly higher average OFC, and fewer had true microcephaly (≤3rd centile) than non-MCM children. MCM participant offspring with PFAS were significantly more likely to have a smooth philtrum. Approaching significance (.05 ≤ p ≤ .10) were larger heads, larger ICD, and larger PFL. Finally, for the ARND group, OFC, ICD, and IPD were all significantly larger for the MCM participant offspring. Indicators of better brain development were present in the MCM offspring within each specific diagnosis category.
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency
Published in Fetal and Pediatric Pathology, 2021
Ceren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, Halil Gürhan Karabulut, Hatice Ilgın Ruhi
The patient, a two-year-old boy, was referred to us because of his growth hormone deficiency, developmental delay, ID, short stature and facial dysmorphisms. He was born at term by cesarean section after uncomplicated pregnancy with a birth weight of 2650 g. He is the third child of a consanguineous parents and he has two healthy brothers. Vesicoureteral reflux was detected prenatally but his parents did not give consent for prenatal genetic study. His motor milestones were delayed as he sat unsupported at the age of 11 months and walked unaided at the age of 22 months. Clinical examination showed dysmorphic features such as large-posteriorly rotated ears, prominent nasal bridge, smoothened philtrum, high-arched palate, downturned corners of the mouth, thin upper lip, short neck and proximally placed thumbs (Figure 1a,b). On developmental assessment, motor developmental and speech delay was noticed. His height was 93 cm (25th percentile), his weight was 13.8 kg (25th percentile), and his head circumference was 46 cm (3rd percentile).
Nasalance in adolescents with autism spectrum disorders
Published in International Journal of Speech-Language Pathology, 2020
Rachel Kasthurirathne, Karen Forrest, Jared Ross, Rita Patel
Nasalance scores are acoustic ratios that quantify the relative nasal energy in a speech sample. Whereas acoustic measures of nasality typically are derived from spectral characteristics of the combined oral and nasal cavities (e.g. A1-P0 and A1-P1; Chen, 1997), nasalance scores are calculated from the energy emitted from each cavity independently. As such, it may be more closely affiliated with velopharyngeal and oral opening. Nasalance is derived from computer-based nasometry systems such as the Nasometer II Model 6450 (PENTAX Medical), wherein a speech-language pathologist or researcher positions a sound separator plate perpendicularly against a speaker’s philtrum to partition oral and nasal energy during speech production. Superior and inferior microphones located on either side of the plate collect nasal and oral energy respectively. The Nasometer II applies a 300 Hz bandpass filter centred at 500Hz to the input and then digitises the signals for calculation of nasalance using the following equation: nasalance (%) = nasal energy (dB)/[nasal energy (dB) + oral energy (dB)]×100 (Fletcher, 1976). Nasalance scores traditionally serve to corroborate and quantify any perceived nasal abnormality in a speech sample (Whitehill & Lee, 2008); however, researchers have also used nasalance scores to characterise oral-nasal balance disorders prior to auditory-perceptual assessment (de Boer, Marino, de Cassia Rillo Dutka, Pegoraro-Krook, & Bressmann, 2018).