Discussion
The first description of Adams-Oliver syndrome, in 1945, was attributed to Forrest Adams and Peter Oliver who gave it their names; described 8 members of one family (1). It’s a rare congenital disorder characterized by a polymalformative syndrome. Its incidence is estimated at 0.44 per 100,000 live births (8). It appears to be more common in women (1,4,5). Adam-Oliver syndrome combines congenital skin aplasia (aplasia cutis congenital) with distal limb anomalies. This syndrome corresponds to type 2 of Frieden’s classification (Appendix 1) (12). Limb malformations are the important anomalies in ODS, with an estimated prevalence of 85%(13). The most frequently described anomalies are nail hypoplasia or anonychia, brachydactyly, polydactyly, syndactyly, and sometimes pseudo-amputation, with the absence of fingers or toes, or even complete absence of hand or foot in extreme forms(2). Cutaneous aplasia is the second most frequent anomaly, observed in 75 to 85% of cases(2,12). It most often affects the vertex in the parietal region, and more rarely the abdomen and limbs. In 64% of patients with vertex involvement, a bony defect of the underlying skull is found (4,10,14). The specific etiologies of congenital skin aplasia are not elucidated, but chromosomal abnormalities, particularly BMS1, intrauterine infections, and teratogenic agents during pregnancy are possible causes(4). Our case presented major criteria for ODS, namely skin aplasia at the vertex with bone defect and distal limb anomalies. Prenatal complications such as intrauterine growth retardation, oligohydramnios, or hydramnios are reported in less than 10% of cases(7,10,15). In our case, severe intrauterine growth restriction was noted. In the absence of other obvious etiologies, such as placental or chromosomal, it was thought to be of vascular origin. Cutis marmorata telangiectasia congenital (CMTC) is described in 20-25% of reported cases of SAO(2,15). It is characterized by dilation of the veins and capillaries of the cutaneous and subcutaneous tissue, anastomosing into networks giving a reticulated (or marbled) appearance. Bluish venous vessels may be visible through transparency, and skin ulcerations and atrophied areas may be noted in places. CMTC may be diffuse over the whole body, including the scalp, or limited to one area. Lesions may remain stable or regress over time(2,12,14).It was absent in our case. Cardiac malformations occur at a frequency of 23% and can account for the full severity of the disease (15). The anomalies observed are left-sided obstructive heart disease, interventricular or interatrial communications, pulmonary arterial hypertension, and pulmonary venous stenosis (4,16). In our case, no congenital heart disease was identified on cardiac ultrasound. Central nervous system malformations occur with a frequency of 30% and can also determine prognosis. A wide variety of anomalies have been described, including polymicrogyria, microcephaly, cortical dysplasia, hydrocephalus with subthalamic and periventricular calcifications, cerebellar hypoplasia, and agenesis of the corpus callosum(4,17–19). Other less frequent anomalies have also been described, such as genitourinary, ophthalmic, and intestinal anomalies (4,15). Our patient had no central nervous system anomalies, as no abnormalities were detected either on neurological examination or on the transfontanellar ultrasound performed. Several genes (ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4) have been identified as linked to this syndrome, but without genotype-phenotype correlation(5,10,11). The pathophysiological mechanism is not well elucidated. Because of the various abnormalities observed, the vascular origin remains the most likely hypothesis, with the main mechanism being an in-utero thrombotic event causing early interruption of blood perfusion to the various affected areas(2). In the absence of a molecular biology and genetics department at the CHUK, no gene was identified in our patient. Autosomal dominant (20) and recessive (8,21) modes of inheritance have been reported, as have sporadic cases (7,9). In the absence of family history and molecular studies, the mode of transmission cannot be determined in our case. Management is multidisciplinary (13) ; there is no univocal management in the initial phase, as it depends on the type of congenital cutaneous aplasia (CCA). In particular, the presence of any associated abnormalities, such as a cardiac anomaly, must be taken into account, as these will affect the prognosis. In the case of ACC of the epidermis vertex with bone aplasia, surgical management is deferred(12). Constriction grooves are treated surgically with Z-plastics; multiple amniotic syndactylies, which are responsible for major functional limitations, require early treatment before any skeletal deformity occurs. The use of skin grafts, in addition to local skin plasty, is decided on a case-by-case basis. Amniotic amputations require few corrective procedures. Functional prostheses are of little use(22).Scarring alopecia of the vertex had not been corrected, awaiting the neurosurgeon’s assessment, let alone the orthopedic burden.