Increased rate of major birth malformations in infants with neonatal “asymmetric crying face”: A hospital‐based cohort study

Abstract

Asymmetric crying face (ACF) is a minor anomaly found in 3-8 per 1,000 births, which may be associated with other anomalies. Previous studies on this topic included small groups of selected subjects, resulting in large variations in findings. The aim of this study was to examine the characteristics and associated anomalies of newborn infants with ACF compared with the general population of newborn infants. The study included newborn infants delivered between 1993 and 2003 at the Department of Neonatology of Rabin Medical Center, Israel. Charts of all newborns diagnosed with ACF were reviewed for obstetric and neonatal details, then compared with non-ACF newborns. ACF was diagnosed in 258 of 67,289 newborns (0.38%), with left-side predominance (77%). Major malformations were found in 7% of ACF infants, 3.5-fold higher than in the total Israeli population. Mild anomalies were present in 15% of the ACF group, and deformations in 4.6%. There was a higher rate of forceps deliveries in the ACF group (RR = 2.73, 95% CI = 1.37-5.42). ACF was more prevalent among females, and the male:female ratio was lower in the ACF group (0.86 vs. 1.06, P = 0.05). The rate of low-birth-weight infants was 3.9% among ACF infants and 9.6% in the control group (RR = 0.41, 95% CI = 0.23-0.76). No significant between-group difference was found for rates of primiparity, macrosomia, prematurity, postmaturity, or size-for-gestational-age. Thus, ACF is associated with a high rate of major malformations. This should prompt clinicians to seek for additional birth defects in ACF infants.

Asymmetric Crying Facies

“…(6) Hemihypertrophy, (14) collodion baby, (15) cystic lymphangioma, (16) and pulmonary agenesis (17) also have been reported in association with ACF.…”

“…The reported frequency of major malformations in retrospective studies is high (range, 5% to 70%) but in prospective studies is approximately 10% (range, 5% to 20%), probably because of less selection bias. (5) Dubnov-Raz and associates (6) found that major malformations occurred in 7% of infants who had ACF, while minor anomalies were noted in 15% and deformations in 4.6%. The risk of associated major malformations with ACF is 3.5-fold higher compared with that in the general population.…”

“…Other major malformations have been described in the central nervous system (agenesis of the corpus callosum, hydrocephalus, and brain cyst), (6) in the genitourinary system (hypospadias, hydronephrosis, vesicoureteral reflux, and cryptorchidism), (6)(10) in the digestive system (esophageal atresia, imperforate anus, megacolon, and inguinal hernia), (6)(10) in the skeletal system (syndactyly, preaxial polydactyly, clinodactyly, cortical thumb, and hemivertebra), (6)(10) and in some genetic syndromes (trisomy 21, trisomy18, 4P deletion, Klinefelter, VATER [vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia], and Griscelli). (11)(12) (13) Minor anomalies described with ACF were found in the skin and soft tissues and were primarily tags of the preauricular and anal areas, pilonidal sinus, single horizontal palmar crease, accessory nipple, and strawberry hemangioma.…”

Asymmetrical crying face concomitant with Glanzmann's thrombasthenia

“…Familial transmission, mostly sporadic, has also been reported in a few cases. Incidence of it is between 0.3 and 0.6% [5]. Pathogenesis of hypoplasia of congenital unilateral depressor anguli oris has not been known yet.…”

Thromboembolism and Congenital Malformations

“…A number of other congenital disorders exhibit a similar unilateral, left-sided, and female predominance. These include congenital ptosis, with or without Marcus-Gunn jaw-winking aberrant innervations, 55,56 and congenital facial palsy, 57 among others. The cranial nerves involved are all vascularized in their peripheral portions by the ipsilateral internal carotid artery, which points to a similar embolic causal mechanism.…”