Asymmetrical crying face concomitant with Glanzmann's thrombasthenia

Bay, Ali; Aktekin, Elif; Ergün, Sercan; Özen, Seval

doi:10.1097/mbc.0b013e3283658ab2

Cited by 2 publications

(2 citation statements)

References 4 publications

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“…Assigning ACF to other monogenic or chromosome syndromes should be considered as an example of unclear differentiation between the facial asymmetry per se and ACF itself. Other than those mentioned, there are also described infrequent cases of associations (a nonrandomised set of congenital diseases without a single recognised causal agent) like the coexistence with Glanzmann's thrombasthenia [16], or a single central incisor, narrowing of an anterior nasal aperture, nonaxial foot underdevelopment [17], unilateral auricular malformation, patent foramen ovale, spinal malformations, and hemihyperplasia [18], situs inversus (a case ascribed to Cayler cardio-facial syndrome) [19], immunodeficiency and partial vitiligo (a case ascribed to Griscelli syndrome) [20], lamellar ichthyosis [21], agenesis of corpus callosum (two cases -one ascribed to neurofibromatosis type 1) [22] -those descriptions, however, predominantly have a casuistry value. Moreover, what has also been emphasised was an increased frequency of occurrences of congenital diseases of other organs and systems, inter alia central nervous system, heart, digestive system, skeletal, genitourinary tracts, and intellectual impairments [13,23] without a formal introduction of the description of particular associations, which, due to the heterogenic picture, seems to be a proper attitude.…”

Section: Associated Anomaliesmentioning

confidence: 99%

Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities

Michalska¹,

Połatyńska²,

Kępczyński³

et al. 2019

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The symmetry of a newborn baby's head and face, including the symmetry of a palpebral fissure, auricles, nose, and the movement of eyelids and mouth, is evaluated during a newborn baby's overall examination. Asymmetric crying facies (ACF) is a congenital disorder resulting from unilateral hypoplasia, or from agenesis of the depressor anguli oris muscle or rarely of the depressor of the edge of the mouth and depressor of labii inferioris. The ACF incidence rate oscillates at about 0.3%, with the dominance of a left-handed disorder. Isolated ACF is treated as a cosmetic defect, although it can accompany a wide range of developmental disorders, the most common of which is congenital facial nerve palsy. In every case, a profound morphological and anatomical evaluation should be executed because, if necessary, the molecular analysis should be widened. Streszczenie Symetria głowy i twarzy noworodka, w tym symetria szpar powiekowych, małżowin usznych, nosa, a także ruchów powiek i ust, jest oceniana w ramach badania ogólnego noworodka. Asymmetric crying facies (ACF) jest wrodzonym zaburzeniem wynikającym z jednostronnej hipoplazji bądź agenezji mięśnia obniżacza kąta ust lub rzadziej mięśni obniżacza kąta ust i obniżacza wargi dolnej. Częstość występowania ACF wynosi około 0,3%, z przewagą po stronie lewej. Izolowana ACF uznawana jest za defekt kosmetyczny, chociaż może towarzyszyć różnorodnym zaburzeniom rozwojowym. Wśród nich na pierwszym miejscu wymienia się wrodzone porażenie nerwu twarzowego. W każdym przypadku należy przeprowadzić szczegółową ocenę morfologiczną i anatomiczną, w razie potrzeby poszerzoną o analizę molekularną.

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Section: Associated Anomaliesmentioning

confidence: 99%

Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities

Michalska¹,

Połatyńska²,

Kępczyński³

et al. 2019

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“…There was a marked depression of the right corner of the mouth during crying ( Glanzmann's thrombasthenia, 4 and a unique combination of features consisting of bilateral absence of the fifth ray in the feet, solitary median maxillary central incisor, and a narrow apertura piriformis. 5 The etiology of this syndrome has not been completely elucidated.…”

Section: Case Descriptionmentioning

confidence: 99%

Asymmetric Crying Facies with Multiple Congenital Malformations: a Case Report

Liu

Yang

et al. 2017

Chinese Medical Sciences Journal

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SYMMETRIC crying facies (ACF) is characterizedby facial asymmetry only when crying. It may present as an exclusive symptom, or be concomitant with other congenital malformations and even some fatal birth defects. Clinically, ACF is featured by drooping of the intact corner of the mouth during crying, while the face appears symmetric at rest. The facial nerve function is symmetric, as determined by frowning, forehead wrinkling, eye closure, and nasolabial fold depth.When ACF alone is present, the cause is often compression of the mandibular branch of the facial nerve that is probably due to birth trauma or abnormal fetal posture in utero.ACF with other congenital anomalies is usually caused by hypoplasia of the depressor anguli oris muscle (DAOM) on one side of the mouth. We described a 26-month-old girl with ACF and multiple congenital malformations in this report and reviewed the relevant literature regarding the occurrence, coexisting anomalies, probable etiologies, and surgical intervention. It is suggested that ACF can be an indicator of coexisting anomalies, and a comprehensive examination should be conducted in these patients. CASE DESCRIPTIONA 26-month-old girl came to the pediatrician's office with a fever and cough for 3 days. She was the first-born child of non-consanguineous ethnic Han Chinese parents.There was no family history of congenital defects.The patient was born at 38-5/7 weeks after an uncomplicated pregnancy. Birth weight was 3100 g, and Apgar score was 9. At birth, it was noted that (i) the right corner of her mouth drooped when crying and (ii) she had a congenital anal atresia accompanied with a rectovaginal fistula. Perineal anoplasty and vaginal repair surgery were performed under general anesthesia as a result on the 15th day after birth.Physical examination revealed normal closure of both eyes and contraction of both occipitofrontalis muscles.There was a marked depression of the right corner of the mouth during crying (Fig. 1)

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Asymmetrical crying face concomitant with Glanzmann's thrombasthenia

Cited by 2 publications

References 4 publications

Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities

Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities

Asymmetric Crying Facies with Multiple Congenital Malformations: a Case Report

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