A Rare Case of Ablepharon Macrostomia Syndrome

Ablepharon Macrostomia Syndrome (AMS) is a rare condition characterized by absent or extremely short eyelids and a large fish-like mouth, only 20 cases were reported.  AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include absent or sparse hair, hypoplasic malar region, redundant skin, rudimentary nipples, and abnormal genitalia. 

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids [1].  

A 10-day old child was sent by the pediatrician for ophthalmological examination.  The father of the child is 27 years old and the mother is 21 years old, they come from a rural environment. The course of pregnancy and child birth have not been documented. On examination, numerous ocular malformations were observed, the ablepharon which is total on the left with the absence of an eyebrow on the same side (Figure 1). Other facial abnormalities were tilted forehead, hypertelorism, flattened nasal bridge, macrostomia, micrognathia (Figure 2), deformed earlobes. The infant also has absent nipples, brachydactyly (Figure 3) and abnormal genitalia. The patient could not be operated on because of the anesthetic risk and monitoring was instituted [2-4].

 Figure 1: Ablepharon. 

Figure 2: Micrognathia. 

Figure 3: Brachydactyly.

The authors declare no conflict of interest.

1. Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, et al. (2018) Use of the masquerade flap in abelpharon-macrostomia syndrome: a case report. Cornea 37: 929-932.
2. Amor DJ, Savarirayan R (2001) Intermediate form of ablepharon-macro stomia syndrome with CNS abnormalities. Am J Med Genet 103: 252-254.
3. McCarthy GT, West CM (1997) Ablepheron macrostomia syndrome. Dev Med Child Neurol 19: 659-663.
4. Cruz AA, Guimarães FC, Obeid HN, Ferraz VE, Noce TR, et al. (1995) Congenital shortening of the anterior lamella of all eyelids: The so called ablepharon macrostomia syndrome. Ophthalmic Plast Reconstr Surg 11: 284-287.