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Facial Clefts
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Facial clefts are usually isolated but may be associated with other medical conditions such as chromosomal abnormality, genetic syndromes, and a family history of facial clefts. Cleft lip is associated with a cleft palate in the majority of cases.
Cranial and Facial Defects
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
The fact that facial clefting is the second most common congenital malformation (13% of congenital anomalies) stresses the importance of face examination in utero. Facial clefts usually involve upper lip, the palate, or both (Figures 22 to 24). They are often associated with other anomalies (up to 60%). Usually, no specific syndrome can be established, although association with well-described syndromes could also be found.33
Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
The commonest facial cleft is cleft lip/palate followed by isolated CP; other facial clefts are actually relatively rare by comparison (up to 5 cases per 100,000 live births). These other clefts exhibit a mixture of tissue deficiency and tissue excess. Environmental factors thought to contribute to facial clefts include influenza A2 virus and toxoplasmosis infection, and also drugs such as anticonvulsants, steroids and tranquillisers. See mesodermal penetration theory above.
Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure
Published in Journal of Plastic Surgery and Hand Surgery, 2019
Pan Zhou, Lin Qiu, Yan Liu, Tianwu Li, Xionghui Ding
Transverse facial cleft is a rare orofacial deformity with an incompletely described pathogenesis. Fog-Anderson [4] in 1965 first reported the incidence of this anomaly ranging from 1:100 to 1:300 of all facial clefts, with male and unilateral predilection. However, the morbidity varies greatly according to the geographical location and ethnicity [5]. In China, the epidemiological investigation showed that the incidence of this anomaly was 0.21/10,000 [6]. Usually, the transverse facial cleft is associated with a syndrome, such as Goldenhar syndrome [7]. It is intriguing that bilateral macrostomia presents frequently as an isolated anomaly [8]. The etiopathogenesis of the abnormality remains incompletely clear at present, but intrauterine trauma and failing fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 depression are the causes [9]. Although some scholars believed that prenatal treatment may also be possible if diagnosis is possible during the postorganogenesis period in utero, the acceptance of prenatal treatment may not be in the immediate future [10]. Thus, surgery for the children who were already born is still the only available treatment at present.
Important considerations in pregnant patients with lupus nephritis
Published in Expert Review of Clinical Immunology, 2018
Gabriella Moroni, Claudio Ponticelli
Glucocorticoids may predispose the pregnant woman to hypertension and pre-eclampsia when used at high doses. Prednisone and derivates easily cross the placenta, but 90% of the maternal dose is metabolized within the placenta by 11-beta-hydroxysteroid dehydrogenase-2. Instead, dexamethasone and betamethasone are less metabolized and may cross the placenta without losing their efficacy. When used at daily doses of 5–10 mg, prednisone (or equivalent doses for other synthetic glucocorticoids) is safe for the mother and the fetus. However, a small reduction of size at birth and adrenal suppression may occur when glucocorticoids are used at high doses. There has been concern about a possible increase of oral-facial clefts in new-borns from mothers receiving glucocorticoids. The causes of orofacial clefts are complex, involving both genetic and environmental factors. At present, it is not possible to completely exclude a possible role of glucocorticoids in inducing oral-facial clefts. However, a Demark study that analyzed the medical registries of primiparous women in 1999–2009 could not find a different risk of oral cleft in offspring between 1449 users of corticosteroids in the early pregnancy and 81,594 non users (0.08% versus 0.2%, OR 0.47) [69]. Prednisone does not enter breast milk and nursing is possible particularly when daily dose does not exceed 20 mg.
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature
Published in Ophthalmic Genetics, 2018
Our patient was delivered at full term by primary cesarean section after an uncomplicated pregnancy. At three-and-a-half weeks, she was evaluated by plastic and reconstructive surgery for a facial cleft; her growth and development were otherwise normal. Examination revealed a midline cleft lip with intact palate, a mass in the left nose partially obstructing the left naris, and an epibulbar dermoid. Subsequent workup included an echocardiogram, renal ultrasound, chromosomal analysis, magnetic resonance imaging (MRI) of the head, and microarray-based comparative genomic hybridization (array CGH). Results were notable for an interhemispheric lipoma within the cranium on MRI and a 1.071-Mb duplication at 4q35.2, previously documented as benign in the database of genomic variants. Given the variant had no documented disease association, including cleft lip or palate, it was regarded as unrelated to our patient’s birth defects. There was no family history of congenital abnormalities, and the parents declined genetic testing.