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Clinical Brief

Nager Acrofacial Dysostosis: An Unusual Association with Both Upper and Lower Eyelid Colobomas Rajoo Thapa, Shanto Pramanik, Maya Mukhopadhyay and Apurba Ghosh 3

Post Graduate Trainee (MD), 1Post Graduate Trainee (DCH), Professor and Head of Pediatrics 2, Professor and Director, The Institute of Child Health, Kolkata.

A B S T R A C T

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas. [Indian J Pediatr 2006; 73 (7) : 631-632] E-mail: apurbaghosh@yahoo.com

Key words : Nager acrofacial dysostosis; Mandibulo facial dysostosis; Eyelid coloboma

Nager acrofacial dysostosis (NAFD) comprises features of severe micrognathia with malar hypoplasia) and limb abnormalities?, z The first case of Nager syndrome was reported by Slingenberg in 1908. 3 It was recognized as a specific entity by Felix Robert Nager and Jean Pierre de Reynier in 1948. 4

An add i t iona l f ind ing was the p resence of cryptorchidism. Full blood count including sepsis screen and chest radiograph done at admission were normal. The respiratory distress however increased progressively and the newborn expired the following morning.

CASE REPORT

A one -day -o ld male te rm neona te bo rn by normal del ivery was admit ted with complaints of respiratory distress and poor feeding since birth. The antenatal period was uneventful. The weight of the baby was 2.1 kg, length 48 cm and head circumference 36 cm.

The baby had severe respiratory distress. There was facial dysmorphism comprising of microcephaly, mid- facial hypoplasia, widely separated down slanting eyes, colobomas on the inner aspect of both upper eyelids and outer aspect of lower eyelids and high arched palate (Fig. 1). Also present were a small-retracted chin, bilaterally low set malformed ears and excess facial hair extending on to the cheeks (Fig. 2). Limb defects i nc luded hypoplastic thumb on both sides, the left one being more affected than the right (Fig. 3). Movement was restricted at the right elbow. The lower limbs were however normal.

Correspondence and Reprint requests : Dr. Apurba Ghosh, Flat no. 3B, 7,Central Park, Jadavpur, Kolkata-700032, West Bengal. Mobile- 9830052887; Fax (033) 22475686.

Fig 1. Bilateral upper and lower eyelid colobomas in a one-day-old neonate with NAFD

DISCUSSION

The craniofacial complex resembles Treacher Collins syndrome and comprises of micrognathia with severe mid-facial hypoplasia2 Also noted are downward slant of the palpebral fissure, ptosis of the eyelids, colobomas and deficiency of eyelashes of lower eyelids (medial one-third

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Rajoo Thapa et al

Fig. 2. Severe micrognathia, malformed low set ears and a "tongue" of hair exten&ng on to cheeks

Fig. 3. Hypoplastic Thumb of Left Hand

to two-thirds), palatal defects and extension of a "tongue" of hair down the sides of the cheeks. Ear abnormalities may include symmetric hypoplasia of parts or whole of the auricles. Nose is genera l ly normal , however , "beaking" and anteversion of nostrils may be found.

Upper eyelid colobomas that are seen commonly in Go ldenha r syndrome , Hemi facial mic rosomia and Treacher Collins syndrome, 5,6 are a very rare association with NAFD. In our case, upper eyelid colobomas were bilaterally and symmetrically present at the junction of medial one-third and lateral two-thirds. Colobomas were also present on the outer aspect of the lower eyelids bilaterally.

A m o n g the l imb anomal ies , the most consis tent

features are pre-axial defects like hypoplas t ic /absent t humbs associa ted with rad io -u lna r synostos is . Tr iphalangeal thumbs and index f inger are equal ly characteristic. Lower limb anomalies are rare?

The most c o m m o n condi t ion to cons ider in the differential diagnosis is t r isomy 18, since all features (micrognathia, radial hypo / aplasia) can be present in this syndrome. However, tr isomy 18 is usually associated with clinodactyly, not with absence of digits. Treacher Collins syndrome may share some of the features of Nager syndrome, but limb and digit abnormalities are not par t of the syndrome . This cond i t ion needs to be d i f ferent ia ted f rom Wi lde rvanck-Smi th or Miller syndrome, which comprises of postaxial limb defects and mandibulofacial dysostosis. Other conditions to rule out are those charac te r ized by u p p e r l imb mesomel ic hypop la s i a such as Roberts syndrome , H o l t - O r a m syndrome , t h r o m b o c y t o p e n i a absent rad ius (TAR) syndrome, Fanconi anemia, Diamond-Blackfan anemia and Okihiro syndrome but facial anomalies have not been reported as part of them. 6

Most of the cases of NAFD are sporadic in occurrence (either due to chance isolated cases or due to de novo dominant mutations)? Perinatal mortality is about 20%, mos t ly related to r esp i ra to ry distress s e c o n d a r y to micrognathia . 1 Survivors after infancy have normal intel l igence and life span. 1 This cond i t ion can be diagnosed prenatally by means of ultrasonography. 7

REFERENCES

1. Jones KL (ed). Smith's Recognizable Patterns of Human Malformation. 6 t~ edn. Philadelphia; WB Saunders Company, 2006; 288-289.

2. OMIM 154400 Acrofacial dysostosis 1,Nager type; AFD 1. http://www.ncbi.nlm.nih.gov / htbin-post / Omim/dispmim? 154400.

3. Slingenberg B. Missbildungen von extremitaten. Virchows Arch Pathol Anat 1908; 193 : 1-91 (case 10).

4. Nager FR, de Reynier JP. Das Geh6rorgan bei den angeborenen Kopfmissbildungen. Practica Oto-Rhino- laryngologica, Basel 1948; 2 (Suppl 2) : 1-128.

5. Branchial Arch and Oro-Acral Disorders. In: Gorhn RJ, Cohen MM Jr, Levin LS. editors. Syndromes of the Head and Neck. New York: Oxford University Press; 1990; 641-649.

6. Mandibulo-Facial Dysostosis. In: Canepa G, Maroteaux P, Pietregrande V, editors. Dysmorphic-Syndromes and Constitutional Diseases of the Skeleton. Padova: Piccin Nuova Libraria S.p.A, 2001; 999-1002.

7. Paladini D, Tartaglione A, Lamberti A, Lapadula C, and Martinelli P. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 2003; 21 : 195-197.

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