Nager acrofacial dysostosis: An unusual association with both upper and lower eyelid colobomas
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《美国医学杂志》
The Institute of Child Health, Kolkata, India
Abstract
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.
Keywords: Nager acrofacial dysostosis; Mandibulo facial dysostosis; Eyelid coloboma
Nager acrofacial dysostosis More Details (NAFD) comprises features of severe micrognathia with malar hypoplasia) and limb abnormalities.[1], [2] The first case of Nager syndrome More Details 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]
Case report
A one-day-old male term neonate born by normal delivery was admitted 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 Figure1. Also present were a small-retracted chin, bilaterally low set malformed ears and excess facial hair extending on to the cheeks Figure2. Limb defects included hypoplastic thumb on both sides, the left one being more affected than the right Figure3. Movement was restricted at the right elbow. The lower limbs were however normal. An additional finding was the presence 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.
Discussion
The craniofacial complex resembles Treacher Collins syndrome More Details and comprises of micrognathia with severe mid-facial hypoplasia.[5] Also noted are downward slant of the palpebral fissure, ptosis of the eyelids, colobomas and deficiency of eyelashes of lower eyelids (medial one-third 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 generally normal, however, "beaking" and anteversion of nostrils may be found.
Upper eyelid colobomas that are seen commonly in Goldenhar syndrome, Hemi facial microsomia 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.
Among the limb anomalies, the most consistent features are pre-axial defects like hypoplastic/absent thumbs associated with radio-ulnar synostosis. Triphalangeal thumbs and index finger are equally characteristic. Lower limb anomalies are rare.[5]
The most common condition to consider in the differential diagnosis is trisomy 18, since all features (micrognathia, radial hypo/aplasia) can be present in this syndrome. However, trisomy 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 part of the syndrome. This condition needs to be differentiated from Wildervanck-Smith or Miller syndrome, which comprises of postaxial limb defects and mandibulofacial dysostosis. Other conditions to rule out are those characterized by upper limb mesomelic hypoplasia such as Roberts syndrome, Holt-Oram syndrome, thrombocytopenia absent radius (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).[1] Perinatal mortality is about 20%, mostly related to respiratory distress secondary to micrognathia.[1] Survivors after infancy have normal intelligence and life span.[1] This condition can be diagnosed prenatally by means of ultrasonography.[7]
References
1. Jones KL (ed). Smith's Recognizable Patterns of Human Malformation. 6th 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 Geh φrorgan bei den angeborenen Kopfmissbildungen. Practica Oto-Rhino- laryngologica , Basel, 1948; 2 (Suppl 2) : 1-128.
5. Branchial Arch and Oro-Acral Disorders. In: Gorlin 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.(Thapa Rajoo, Pramanik Sha)
Abstract
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.
Keywords: Nager acrofacial dysostosis; Mandibulo facial dysostosis; Eyelid coloboma
Nager acrofacial dysostosis More Details (NAFD) comprises features of severe micrognathia with malar hypoplasia) and limb abnormalities.[1], [2] The first case of Nager syndrome More Details 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]
Case report
A one-day-old male term neonate born by normal delivery was admitted 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 Figure1. Also present were a small-retracted chin, bilaterally low set malformed ears and excess facial hair extending on to the cheeks Figure2. Limb defects included hypoplastic thumb on both sides, the left one being more affected than the right Figure3. Movement was restricted at the right elbow. The lower limbs were however normal. An additional finding was the presence 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.
Discussion
The craniofacial complex resembles Treacher Collins syndrome More Details and comprises of micrognathia with severe mid-facial hypoplasia.[5] Also noted are downward slant of the palpebral fissure, ptosis of the eyelids, colobomas and deficiency of eyelashes of lower eyelids (medial one-third 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 generally normal, however, "beaking" and anteversion of nostrils may be found.
Upper eyelid colobomas that are seen commonly in Goldenhar syndrome, Hemi facial microsomia 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.
Among the limb anomalies, the most consistent features are pre-axial defects like hypoplastic/absent thumbs associated with radio-ulnar synostosis. Triphalangeal thumbs and index finger are equally characteristic. Lower limb anomalies are rare.[5]
The most common condition to consider in the differential diagnosis is trisomy 18, since all features (micrognathia, radial hypo/aplasia) can be present in this syndrome. However, trisomy 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 part of the syndrome. This condition needs to be differentiated from Wildervanck-Smith or Miller syndrome, which comprises of postaxial limb defects and mandibulofacial dysostosis. Other conditions to rule out are those characterized by upper limb mesomelic hypoplasia such as Roberts syndrome, Holt-Oram syndrome, thrombocytopenia absent radius (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).[1] Perinatal mortality is about 20%, mostly related to respiratory distress secondary to micrognathia.[1] Survivors after infancy have normal intelligence and life span.[1] This condition can be diagnosed prenatally by means of ultrasonography.[7]
References
1. Jones KL (ed). Smith's Recognizable Patterns of Human Malformation. 6th 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 Geh φrorgan bei den angeborenen Kopfmissbildungen. Practica Oto-Rhino- laryngologica , Basel, 1948; 2 (Suppl 2) : 1-128.
5. Branchial Arch and Oro-Acral Disorders. In: Gorlin 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.(Thapa Rajoo, Pramanik Sha)